Alpha Thalassemia in Southeast Asia
Summary
TLDRThe script discusses alpha thalassemia, a genetic disorder prevalent in Asia and the Mediterranean, associated with malaria protection. It covers its clinical significance, prevalence, molecular defects, and management strategies including genetic counseling and prenatal diagnosis, emphasizing its impact in Southeast Asia.
Takeaways
- 🌏 Alpha thalassemia is a common genetic disorder prevalent in Asia, the Middle East, and Mediterranean countries, with increasing clinical significance in North America, Australia, and Europe due to migrations.
- 🌡 It is associated with areas where malaria is or was endemic, suggesting a possible protective role of carriers against malaria, although the exact reason remains unknown.
- 📊 A recent study in Thailand aimed to estimate the burden of alpha thalassemia using a comprehensive prevalence database for Southeast Asia, highlighting the need for more information on the disease.
- 🧬 Alpha thalassemia is caused by deletions or mutations in the alpha globin genes, leading to decreased or absent production of alpha globin chains and an excess of other chains, which are nonfunctional and cause hemolysis.
- 🔬 The clinical severity of alpha thalassemia correlates with the degree of alpha globin chain deficiency, which is a consequence of molecular defects in the alpha globin gene.
- 🏥 Diagnosis of alpha thalassemia can be confirmed through laboratory tests and molecular techniques, including CBC, RBC indices, and hemoglobin electrophoresis.
- 🧬 Molecular analysis is crucial for specific diagnosis, identifying common mutations in the alpha globin gene, especially in Southeast Asia where certain nondeletional mutations can be more clinically significant.
- 🩺 Management of alpha thalassemia varies; silent carriers and those with alpha thalassemia trait may not need treatment, while hemoglobin H disease can range from mild to severe and may require regular transfusions.
- ⚠️ Hydrops fetalis, the most severe form of alpha thalassemia, is typically fatal, but prenatal diagnosis and interventions like intrauterine transfusions can improve outcomes.
- 👨👩👧👦 Genetic counseling and prenatal diagnosis are essential to prevent the perpetuation of the disease and to prepare for the potential health burdens associated with severe forms of the disorder.
- 🏛 Community education and involvement are vital for the prevention and management of the long-term complications of alpha thalassemia, emphasizing the importance of awareness and proper healthcare systems.
Q & A
What is alpha thalassemia?
-Alpha thalassemia is a genetic blood disorder characterized by reduced or absent production of alpha globin chains, leading to an imbalance in hemoglobin synthesis and causing various clinical manifestations.
Why is alpha thalassemia more prevalent in certain regions like Asia and the Middle East?
-Alpha thalassemia is more prevalent in regions such as Asia and the Middle East because these areas are in tropical and subtropical regions where malaria is or was endemic, and carriers of the alpha globin gene mutations are thought to offer some protection against malaria.
What are the clinical significances of alpha thalassemia in different countries?
-While alpha thalassemia is highly prevalent in Asia, the Middle East, and Mediterranean countries, its clinical significance is also noted in North America, Australia, and Europe due to massive migrations from areas where the disorder is endemic.
What is the estimated percentage of the world population that carries at least one alpha thalassemia variant?
-It is estimated that up to 5% of the world population carries at least one variant of alpha thalassemia, with some populations reporting gene frequencies close to 80%.
What are the severe forms of alpha thalassemia that are seen in Southeast Asia?
-In Southeast Asia, more severe forms of alpha thalassemia are observed, which can include hemoglobin H disease and hydrops fetalis, the latter of which is often lethal or incompatible with life.
What is the significance of the alpha and beta globin genes in the context of alpha thalassemia?
-The alpha and beta globin genes are crucial for hemoglobin production. In alpha thalassemia, there are deletions or mutations in the alpha globin genes, leading to decreased or absent production of alpha globin chains and an excess of other globin chains, causing various clinical issues.
How are the different forms of alpha thalassemia classified based on the number of functional alpha genes?
-The forms of alpha thalassemia are classified based on the number of functional alpha genes: silent carrier status with three functional genes, alpha thalassemia 3 with two functional genes, hemoglobin H disease with one functional gene, and hemoglobin Barts hydrops fetalis with no functional genes.
What are the common mutations observed in alpha thalassemia in Southeast Asia?
-Common mutations in alpha thalassemia in Southeast Asia include deletions affecting one or two alpha genes, such as the Southeast Asian deletion, and nondeletional mutations that can have a more significant clinical impact, especially those affecting the alpha 2 globin gene.
How is alpha thalassemia diagnosed without the benefit of newborn screening results?
-Diagnosis of alpha thalassemia without newborn screening results relies on a combination of history and physical examination, evidence of anemia, and laboratory tests such as complete blood count (CBC), red blood cell indices, hemoglobin electrophoresis, and molecular techniques.
What are the management strategies for different forms of alpha thalassemia?
-Management of alpha thalassemia varies based on the form: silent carriers and alpha thalassemia trait may not require treatment, while hemoglobin H disease may require intermittent or regular blood transfusions, and hydrops fetalis may necessitate intrauterine interventions or stem cell transplantation.
Why is genetic counseling important in the context of alpha thalassemia?
-Genetic counseling is important to inform at-risk couples about the potential for having children with severe forms of alpha thalassemia, such as hydrops fetalis, and to discuss options for prevention and management of the disorder.
What is the role of community education in the prevention and management of alpha thalassemia?
-Community education is essential to raise awareness about alpha thalassemia, its symptoms, and the importance of diagnosis and management. This helps to prevent the perpetuation of the disorder within communities and ensures individuals receive appropriate care.
Outlines
🌏 Global Prevalence and Clinical Significance of Alpha Thalassemia
This paragraph discusses the widespread occurrence of alpha thalassemia, particularly in Asia, the Middle East, and Mediterranean countries. It notes the condition's clinical significance in regions like North America, Australia, and Europe, drawing parallels with other genetic disorders such as sickle cell anemia and beta thalassemia. The speaker highlights the correlation between the prevalence of alpha thalassemia and areas where malaria is or was endemic, suggesting a possible protective role against malaria for carriers of the condition. The paragraph also emphasizes the need for increased awareness and research in Thailand and Southeast Asia due to the high prevalence and clinical impact of severe forms of alpha thalassemia in these regions.
🧬 Genetic Mutations and Clinical Manifestations of Alpha Thalassemia
The second paragraph delves into the genetic aspects of alpha thalassemia, explaining the different forms of the condition based on the number of functional alpha genes. It describes silent alpha thalassemia, alpha thalassemia 3, hemoglobin H disease, and hemoglobin Barts hydrops fetalis, detailing their clinical implications and the potential for severe anemia. The speaker also discusses the types of mutations, predominantly deletions, that can lead to alpha thalassemia, and the significance of nondeletional mutations, especially those affecting the alpha 2 globin gene, which can result in more severe clinical manifestations. The paragraph concludes with a focus on common mutations in Southeast Asia, including the nondeletion variant seen in hemoglobin constant spring, and its increasing prevalence due to migration.
🩺 Diagnosis and Management of Alpha Thalassemia
This paragraph outlines the diagnostic process for alpha thalassemia, emphasizing the importance of laboratory tests such as CBC and RBC indices to identify anemia and microcytosis. It also mentions the use of molecular techniques for a definitive diagnosis. The speaker discusses the management of different forms of alpha thalassemia, noting that silent carriers typically do not require treatment, while individuals with hemoglobin H disease may need regular transfusions and are at risk of iron overload. Hydrops fetalis, a severe form of the disease, is highlighted as incompatible with life, although intrauterine transfusions have been used in some cases to improve outcomes. The paragraph concludes with a call for better data collection and molecular diagnosis to aid in the management of alpha thalassemia.
👨👩👧👦 Genetic Counseling and Public Health Implications of Alpha Thalassemia
The final paragraph focuses on the importance of genetic counseling and prenatal diagnosis in preventing the transmission of severe forms of alpha thalassemia. It discusses the risk of having a child with hydrops fetalis and the potential for parents who are carriers to have children with varying degrees of the disease. The speaker emphasizes the role of community education and the need for physicians to be trained in the diagnosis and management of alpha thalassemia, as it can present similarly to other common anemias. The paragraph also touches on the long-term complications of anemia and iron overload, highlighting the need for multi-specialty care and public health strategies to address these issues effectively.
Mindmap
Keywords
💡Alpha Thalassemia
💡Genetic Abnormalities
💡Hemoglobin
💡Endemic
💡Mutation
💡Clinical Significance
💡Carrier
💡Molecular Techniques
💡Hemoglobinopathies
💡Genetic Counseling
💡Community Education
Highlights
Alpha thalassemia is a common genetic disorder prevalent in Asia, the Middle East, and Mediterranean countries.
The disorder is also seen in North America, Australia, and Europe, though its clinical significance varies.
Alpha thalassemias are associated with regions where malaria is endemic, suggesting a protective role for carriers against malaria.
The exact reason for the protective effect against malaria in carriers is still unknown despite extensive research.
In Southeast Asia, alpha thalassemia manifests in severe forms and is a significant health burden.
Massive migrations have spread the problem of alpha thalassemia to countries like Europe and North America.
An estimated 5% of the world population carries at least one alpha thalassemia variant.
Southeast Asia reports more severe forms of alpha thalassemia due to higher gene frequencies.
A recent study in Thailand aimed to estimate the burden of alpha thalassemia using a comprehensive prevalence database.
The study revealed a spatial distribution of alpha thalassemia alleles in Southeast Asia.
Alpha thalassemia is caused by deletions or mutations of the alpha globin gene, leading to decreased or no production of alpha globin chains.
Nonfunctional hemoglobins like hemoglobin Barts and hemoglobin H are produced in excess, causing hemolysis.
Different forms of alpha thalassemia are determined by the number of functional alpha genes.
Clinical classification of alpha thalassemia depends on the loss of alpha globin genes and the type of mutation.
There are 128 known deletions for alpha thalassemia, with most being deletions and some more clinically significant due to their impact on alpha chain production.
Non-deletion mutations affecting the alpha 2 globin gene can lead to more severe manifestations of the disease.
Common mutations in Southeast Asia include the non-deletion variant seen in Chinese sister hemoglobin constant spring.
Diagnosis of alpha thalassemia can be missed without newborn screening and requires a combination of history, physical examination, and laboratory tests.
Molecular techniques are used for specific diagnosis of alpha thalassemia, identifying common mutations.
Management of alpha thalassemia includes proper workup for carriers, especially if anemia develops, and avoiding prophylactic iron.
Hemoglobin H disease can range from mild to severe and may require regular transfusions, leading to iron overload.
Hydrops fetalis, the most severe form of alpha thalassemia, is often fatal, but some cases have survived with intrauterine transfusions and are candidates for stem cell transplant.
Genetic counseling and prenatal diagnosis are crucial in preventing the disease and managing long-term complications.
Community education and physician training are essential for the prevention and management of alpha thalassemia.
The prognosis for alpha thalassemia varies, with good outcomes for asymptomatic carriers but variable outcomes for hemoglobin H disease due to potential iron accumulation.
Transcripts
alpha phalasinia is one of the most common uh
modelling genetic abnormalities
uh it is highly prevalent in the Asia
in the Middle East in the Mediterranean countries
however
seen in clinical significance in other countries
like the North America
Australia and Europe this is the outline of my top
no just like any other uh
globing gene disorders like your
or sickle cell anemia and your beta fallassemia
your alpha fallassemias
are found in the tropical and subtropical areas
where malaria was or is endemic
and it is thought that carriers of this immoglobin
authorities offer Protection against malaria
and the reason behind this is still unknown
despite extensive research
now as I've said before it is common in Asia
and specifically in Southeast Asia
where it's clinical significant is uh
uh seen in different forms of alpha celacemias
with severe manifestations however
because of massive migrations
this become a problem in other parts of the country
like Europe and North America
as of now it is estimated
that up to 5% of the world population cares
at least one alpha philassemia variant
with some populations reporting gene frequencies
close to 80% but it is more clinically significant in
Southeast Asia where you see
the more severe forms of alpha philassemia
now this is why in Thailand
uh
knowing uh there's uh
grooving
demand for more information regarding the prevalence
and
estimates of health burden for this disease
several studies were done in
this is one of the most recent published study
and this was done in Thailand
where it aim to estimate
the burden of alpha fellasinia in Thailand
using a comprehensive prevalence database
for Southeast Asia now this is uh
this map is a uh
reflection of the spatial distribution
of the prevalence in the sample sizes
no of your alpha alacemia alleles in the range or no
as as a result of this study
and this comprised countries like a Moja
allows in Vietnam and of course Thailand
in the because of this
the result of the study estimated around 3,000 95
who borns
and this paper also highlights the need
2 alpha globingine in your chromosome 16
and 1 beta globingine in your
and the last senior refers to a spectrum of disorders
characterized by reduced or absent
production of one or more non alpha
in alpha global chains and
this results in the disruption of the delicate balance
oh as I've said before
alpha phalascemia is due to deletions
or mutation of your alpha globingine
and what happens is that there will be decreased
or option production of your
alpha
globin chain and as a result
there will be excess production of
your gamoglobin chains in the Newborn
in these forms your hemoglobin Barts
and after the Newborn period will be excess uh
meta globin chain production in this
to your hemoglobin each
now this uh uh hemoglobins are nonfunctional
they cannot deliver oxygen effectively
and they stick to RBC membranes causing hemolysis
now
slide is a glowing chain plaster now depending
functional alpha genes you will have
the different forms of your alpha thalassemia
so and you have a silent alpha thalassemia
when when there is three functional gene in
if only two functional genes
you will have your alpha salascemia 3
which can be homozygous or heterozygous
and if only one functional gene
alpha gene
then you will have your hemoglobin H disease
and of course if no functional gene
then this will give rise to your hemoglobin uh
Barts hydropsythalese
which is lethal or not compatible with life
now this is
the clinical classification of alpha thalassemia
or the genotype phenotype correlation
and this depends on the neck loss of alphaglobin gene
which can be due to the number of alphaglobin
gene affected
which alpha globe in low side is affected
whether it's a deletional
or nondeletional form of mutation
or if it's a non deletional then there's no mutation
partially or fully anemia at all
while with those with alacemia
treat will have MALD anemia and microsatosis
and examination of your peripheral smear
while your hemoglobin H
disease can vary from moderate to severe anemia
having mild jaundice and moderate hepatosplanomegaly
and of course
your hydropspitalis is not compatible with life
fetuses born will have severe anemia
journalists and edemaciitis Mark hepatospline omegaly
skeletal and cardiovascular malformations uh
will be noted
now
these are the different types of mutations in alpha
palasinia
most of these mutations are uh are are deletions
no in fact
today there are already 128 known deletions
uh for alpha phalasinia and uh molecular defects
no and most of these are uh deletions
it can have small deletions
where in 1 alpha gene is just uh
affected and uh several recombinations are produced
and these are the common mutations and uh uh that are
are observed not uh listed in this line
there can be large deletions involving two alpha genes
in the most common of this is your Southeast Asia
deletions
however it is the non deletions that are considered uh
sometimes more clinically significant
no uh in fact this deletions
this non deletions
give rise to more severe reduction of your alpha chain
cymme disease and this phenomenon may be explained
but by the fact
majority of these mutations affect your hemoglobin
E2 gene this alpha 2
globin gene is considered the dominant adult
moglobin gene which is expressed at two to three fold
higher levels than your alpha 1 globin gene
at most mrna and protein levels
so that when it is affected
the transcription of this
effective alpha 2 globin gene
also interferes with your alpha 1
further reducing alpha globin chain production
more Malica say if your alpha 1 is affected
there is a compensation
or compensatory reaction of your alpha 2 globin gene
however when your alpha 2 globin gene is affected
it creates a more severe uh
reduction in your alpha globe in gene production
hence in more clinically significant manifestation
now these
are the common mutations
in alpha thalassema in Southeast Asia
and uh one of the most common
non deletion variants in Southeast Asia
among Chinese sister hemoglobin constant spring
uh this hemoglobin constant spring is uh seen in
has a gene frequency of 8%
and this results from a mutation
a termination cordon of your alpha tube globin gene
which leads to synthesis
the synthesis of unstable and elongated alpha globin
ah chin additionally
they have more AH30 one amino acids more
and this is the most prevalent nondeletional ah
alpha thalassemia in in in the region
specifically in China and Southeast Asia
and it is gained increase incidents
nor there's increasing incidents
in other parts of the world
as I've said before because of migration
and it creates a more
a moderately severe form of alpha fallassemia uh
with a binding of your uh
alpha constant spring
globin chain on the inner membrane of your red blood
cell containing your hemoglobin constant spring
and this can cost are increasing molyses
and unusual pathombiology of red blood cells
among patients are having this mutation
now it can be missed not in uh HPLC
but can be detected uh
more efficiently in your capillary electrophoresis
now how do we diagnose alpha phylescemia
without the benefit of the results of Newborn screening
well uh history and physical examination uh
evidence of anemia can lead us to diagnosis
but we need laboratory exams to uh uh
make the diagnosis of
complete diagnosis of alpha thalassemia
and with your CBC and rbc in
this is uh uh
you can see uh degree of high hypochromia
microsatosis in anemia
based on the results of your CBC and RBC in disease
and you will see in this slide that
the level of your hemoglobin correlates well
with the
number of your functional genes
no as you can see in the first graph
if you have a normal uh genotype
no mutations then you have a normal individual
without any evidence of hemolysis or anemia
without abnormality in your uh
uh level of your
uh mean cell volume or your MCV or your mean cell uh
monogloping concentrations manifested in your uh
RBC indecessors no
so but normal no
no genetic
no gene abnormalities nor volume levels but as
as the number of functional genes decreases
you will see that the values of your ammogular
being your MCV m m m C H also decreases
this can also be evident
upon examination of your peripheral smear
where you will see hypochromia
microcytosis target cell formation
uh you can see occasional sphere sites and upon uh
staining of your smear with your brilliant crusty blue
you will see inclusion bodies
now uh your hemoglobin A2 levels
no by using HPLC and capillary electroforesis can
you can also see no further decrease
no in your hemoglobin A2 level
and this correlates well
with the number of functional genes uh
uh involved and uh
this is an example of an adult uh
hemoglobin electrophoresis
your hblc and capillary electrophoresis demonstrating
demonstrating the presence of your hemoglobin H
now
you can specifically diagnose alpha thalassemia using
uh molecular techniques
and these are the common uh uh diagnostic uh way
uh in in molecular biomolecular analysis K
now let's go to alpha thalassemia management
hopefully in the near future
we'll have a complete no data in our registry
the types of alpha thalassemia we have
as well as using this molecular
way of diagnosing alpha thalassemia
the common mutations that will lead or are are um
observed in our country
how do we manage palasemia for alpha salassemia
treat no need for treatment because they are
they have no anemia or they might have anemia
which can be very mild
and the carriers of this alpha salassemia treat however
should be properly worked up
no uh especially if they develop anemia
because
there may be coexisting nutritional deficiencies
and once diagnosed to have uh
nutritional deficiency anemias
then they should be treated accordingly
however prophylactic iron should not
never be given to carriers
no alpha alacemia
especially those who are at risk of developing
iron overload
how about immoglobin H disease
it can be a mild to severe disorder
and it depends on the mutation
which influences the clinical severity
the delusional type has milder disease
with intermittent transfusion
however
the non delusional type has moderately to severe
anemia which been omegaly
it might require regular transfusions early in infancy
up to late adulthood and because of this uh
regular transmission they can have iron overload
now for Hydrox fatales uh
this is not compatible with life
but in in some uh institutions
intrauterine transfusions
following early detection
have resulted in the birth of this nonhydropic uh
infants and this infants uh survive
will survive because of this intervention
are good candidates for him
at the poetic stem cell transplant transplantation
now genetic counseling and untenatal diagnosis
is available in most part of uh
South East Asia and this is important to prevent uh
perpetration of the disease as well as uh
having a child with a hydroxphatales
now for example
if you have a father who has mild anemia is considered
uh the portal acemia trait
having uh two genes missing
and a mother with no signs and symptoms of anemia
but uh they uh become parents
no or there is always a chance of having a child
no of uh having a hemoglovine age disease
uh for every birth or for every pregnancy
a 25% chance of having a child with multiple H disease
now there will be children without anemia
no normal no genes missing
there can be uh
children with silent carrier or uh with alacemia three
however if one of the carrier is a homozygal
then the risk of having a hemoglobin
age disease increases to 50%
for every pregnancy and when both parents
carry an alpha salascemia mutation
then this type of mutation
the risk of their offspring having hemoglobin Barts
hydrospitalis is 25% so important italegrate
if you know the type of alpha celestinia
you have type of mutation
so that parents can be advised
regarding the pregnancy of the mother
now it's also important that
position in the community
are involved in the management of Palestinians
individuals of one
with one of the various forms of polycemia trait
may be entirely as symptomatic
unaware of their diagnosis
and procreate with other individuals with the same
trait
thereby perpetuating the disorder within the community
so important in a uh physicians know this
and that
they are trained in the diagnosis and management of
alpha phalasemia
since it has similar presentation with other
common diseases causing anemia
like nutritional anemis and chronic blood loss
so Nissan Phosayne anemis know uh
everybody stated as iron deficiency
where us in Pala we have telesemia
and of course physicians should know
how to address the long term complications of anemia
in iron overload
and this requires multi specialty care
under well formulated guidance
prognosis is good generally
for those who are asymptomatic and with bad anemia
but the outcome for hemoglobin H disease is variable
especially the long term problem of iron accumulation
which can be a more severe problem
for nondeletional type of alpha cell acemia
and of course in general not
this may depend on the awareness
and availability of healthcare systems
equipped to address the law
this long term complications of the disease as well
it's public health uh implication
in summary I have presented alpha thalassemia
this presentation
patho physology as well as diagnosis and management
and this are this my take home message
alfasal acemia
so why you distributed all over the world
it is a clinically significant health
uh problem in Southeast Asia
or severe variants of the disease exist
and there are four major phenotypes
the silent carrier dalpathel acemia
3HBH disease and hydrosphetolysis Vitalis
and the clinical severity correlates well
with a degree of alpha globin chain deficiency
which is a consequence of molecular
defects in the alpha globin gene
diagnosis is confirmed by both laboratory
and molecular techniques and the genetic and antinatal
uh genetic and antinatal counseling are important
to avoid pregnancies with mogulbin parts
with Ali syndrome which causes munatal death
positions and decision
and community education are essential
in the prevention
in management long term complications
thank you very much
Ang alpha phalasinia ay isa sa pinakakaraniwang uh
Pagmomodelo ng mga genetic abnormalities
uh ito ay lubos na laganap sa Asya
sa Gitnang Silangan sa mga bansang Mediteraneo
gayunpaman
nakikita sa klinikal na kahalagahan sa ibang mga bansa
tulad ng North America
Australia at Europe ito ang balangkas ng aking tuktok
hindi tulad ng iba uh
globing gene disorder tulad ng sa iyo
o sickle cell anemia at ang iyong beta fallassemia
iyong alpha fallassemias
ay matatagpuan sa mga tropikal at subtropikal na lugar
kung saan ang malaria ay o endemic
at ito ay naisip na carrier ng immoglobin na ito
Nag-aalok ang mga awtoridad ng Proteksyon laban sa malaria
at ang dahilan sa likod nito ay hindi pa rin alam
sa kabila ng malawak na pananaliksik
ngayon gaya ng sinabi ko noon ay karaniwan na sa Asya
at partikular sa Timog Silangang Asya
kung saan ito ay klinikal na makabuluhan ay uh
uh nakikita sa iba 't ibang anyo ng alpha celacemias
na may malubhang manifestations gayunpaman
dahil sa napakalaking migrasyon
nagiging problema ito sa ibang bahagi ng bansa
tulad ng Europa at Hilagang Amerika
sa ngayon ay tinatantya
na hanggang 5% ng populasyon ng mundo ay nagmamalasakit
kahit isang variant ng alpha philassemia
na may ilang populasyon na nag-uulat ng mga frequency ng gene
malapit sa 80% ngunit ito ay mas klinikal na makabuluhan sa
Southeast Asia kung saan mo nakikita
ang mas malubhang anyo ng alpha philassemia
ngayon ito ang dahilan kung bakit sa Thailand
eh
knowing uh meron uh
pag-ukit
demand para sa karagdagang impormasyon tungkol sa pagkalat
at
Mga pagtatantya ng pasanin sa kalusugan para sa sakit na ito
ilang pag-aaral ang ginawa sa
ito ay isa sa pinakahuling nai-publish na pag-aaral
at ito ay ginawa sa Thailand
kung saan nilalayon nitong tantiyahin
ang pasanin ng alpha fellasinia sa Thailand
gamit ang isang komprehensibong database ng prevalence
para sa Southeast Asia ngayon ito ay uh
ang mapa na ito ay isang uh
salamin ng spatial distribution
ng pagkalat sa mga laki ng sample
wala sa iyong alpha alacemia alleles sa hanay o hindi
bilang resulta ng pag-aaral na ito
at ito ay binubuo ng mga bansa tulad ng isang Moja
pinapayagan sa Vietnam at siyempre Thailand
sa dahil dito
ang resulta ng pag-aaral ay tinatayang nasa 3,000 95
sino ang ipinanganak
at itinatampok din ng papel na ito ang pangangailangan
2 alpha globingine sa iyong chromosome 16
at 1 beta globingine sa iyong
at ang huling senior ay tumutukoy sa isang spectrum ng mga karamdaman
nailalarawan sa pamamagitan ng nabawasan o wala
produksyon ng isa o higit pang hindi alpha
sa alpha global chain at
Nagreresulta ito sa pagkagambala ng maselang balanse
oh gaya ng sinabi ko kanina
Ang alpha phalascemia ay dahil sa mga pagtanggal
o mutation ng iyong alpha globingine
at ang mangyayari ay mababawasan
o opsyon na produksyon ng iyong
globin chain at bilang isang resulta
magkakaroon ng labis na produksyon ng
Your Gamoglobin chain sa Bagong panganak
sa mga form na ito ang iyong hemoglobin Barts
at pagkatapos ng Newborn period ay magiging labis uh
meta globin chain production dito
sa iyong hemoglobin bawat isa
ngayon itong uh uh hemoglobins ay nonfunctional
hindi sila makapaghatid ng oxygen nang epektibo
at dumidikit sila sa mga lamad ng RBC na nagdudulot ng hemolysis
ngayon
Ang slide ay isang kumikinang na chain plaster ngayon depende
functional alpha genes na magkakaroon ka
ang iba 't ibang anyo ng iyong alpha thalassemia
So at mayroon kang tahimik na alpha thalassemia
kapag may tatlong functional gene sa
kung dalawang functional genes lang
magkakaroon ka ng iyong alpha salascemia 3
na maaaring homozygous o heterozygous
at kung isang functional gene lang
gene ng alpha
pagkatapos ay magkakaroon ka ng iyong hemoglobin H disease
at siyempre kung walang functional gene
tapos ito ang magbubunga ng hemoglobin mo uh
Ang hydropsythalese ni Barts
na nakamamatay o hindi tugma sa buhay
ngayon ito ay
ang klinikal na pag-uuri ng alpha thalassemia
o ang genotype phenotype correlation
at ito ay depende sa pagkawala ng leeg ng alphaglobin gene
na maaaring dahil sa bilang ng alphaglobin
apektado ang gene
aling alpha globe sa mababang bahagi ang apektado
kung ito ay isang pagtanggal
o nondeletional na anyo ng mutation
o kung ito ay isang hindi pagtanggal, walang mutation
Bahagyang o ganap na anemia sa lahat
habang kasama ang mga may alacemia
Magkakaroon ng MALD anemia at microsatosis ang treat
at pagsusuri ng iyong peripheral smear
habang ang iyong hemoglobin H
Ang sakit ay maaaring mag-iba mula sa katamtaman hanggang sa malubhang anemia
pagkakaroon ng banayad na paninilaw ng balat at katamtamang pagplano ng hepatos
at syempre
ang iyong hydropspitalis ay hindi tugma sa buhay
Ang mga fetus na ipinanganak ay magkakaroon ng matinding anemia
mga mamamahayag at edemaciitis Mark hepatospline omegaly
skeletal at cardiovascular malformations uh
mapapansin
ngayon
ito ang iba 't ibang uri ng mutasyon sa alpha
Palatin
karamihan sa mga mutasyon na ito ay uh ay mga pagtanggal
hindi talaga
ngayon ay mayroon nang 128 na kilalang pagtanggal
uh para sa alpha phalasinia at uh molecular defects
hindi at karamihan sa mga ito ay uh mga pagtanggal
maaari itong magkaroon ng maliliit na pagtanggal
saan sa 1 alpha gene ay uh lang
apektado at uh ilang recombinations ang ginawa
at ito ang mga karaniwang mutasyon at uh uh iyon
ay sinusunod hindi uh nakalista sa linyang ito
maaaring magkaroon ng malalaking pagtanggal na kinasasangkutan ng dalawang alpha genes
sa pinakakaraniwan dito ay ang iyong Southeast Asia
Mga pagtanggal
gayunpaman, ang mga hindi pagtanggal ang itinuturing na uh
minsan mas klinikal na makabuluhan
hindi uh sa katunayan ang mga pagtanggal na ito
itong hindi pagtanggal
magbunga ng mas matinding pagbabawas ng iyong alpha chain
cymme disease at ang hindi pangkaraniwang bagay na ito ay maaaring ipaliwanag
ngunit sa katotohanan
Karamihan sa mga mutasyon na ito ay nakakaapekto sa iyong hemoglobin
E2 gene itong alpha 2
Ang globin gene ay itinuturing na nangingibabaw na nasa hustong gulang
Moglobin gene na ipinahayag sa dalawa hanggang tatlong beses
mas mataas na antas kaysa sa iyong alpha 1 globin gene
At karamihan sa mga antas ng mrna at protina
para kapag naapektuhan
ang transkripsyon nito
epektibong alpha 2 globin gene
nakakasagabal din sa iyong alpha 1
higit pang pagbabawas ng produksyon ng alpha globin chain
More Malica say kung apektado ang alpha 1 mo
may kabayaran
o compensatory reaction ng iyong alpha 2 globin gene
gayunpaman kapag ang iyong alpha 2 globin gene ay apektado
Lumilikha ito ng mas malala uh
pagbawas sa iyong alpha globe sa paggawa ng gene
samakatuwid sa mas klinikal na makabuluhang pagpapakita
ngayon ang mga ito
ay ang mga karaniwang mutasyon
sa alpha thalassema sa Timog Silangang Asya
at uh isa sa pinakakaraniwan
mga variant ng hindi pagtanggal sa Southeast Asia
sa mga Chinese kapatid na babae hemoglobin pare-pareho spring
uh itong hemoglobin constant spring ay makikita sa
ay may dalas ng gene na 8%
at ito ay nagreresulta mula sa isang mutation
isang termination cordon ng iyong alpha tube globin gene
na humahantong sa synthesis
ang synthesis ng hindi matatag at pinahabang alpha globin
ah baba din
mas marami silang AH30 isang amino acids pa
at ito ang pinakalaganap na nondeletional ah
alpha thalassemia sa in sa rehiyon
partikular sa Tsina at Timog Silangang Asya
at ito ay nakakuha ng pagtaas ng mga insidente
o dumarami ang mga insidente
sa ibang bahagi ng mundo
gaya ng sinabi ko noon dahil sa migration
at lumilikha ito ng higit pa
isang katamtamang malubhang anyo ng alpha fallassemia uh
na may pagkakatali ng iyong uh
alpha pare-pareho ang tagsibol
globin chain sa panloob na lamad ng iyong pulang dugo
cell na naglalaman ng iyong hemoglobin constant spring
at ito ay maaaring gastos ay pagtaas ng molyses
at hindi pangkaraniwang pathombiology ng mga pulang selula ng dugo
sa mga pasyente ay nagkakaroon ng mutation na ito
ngayon maaari itong makaligtaan hindi sa uh HPLC
pero pwedeng ma-detect uh
mas mahusay sa iyong capillary electrophoresis
ngayon paano natin masuri ang alpha phylescemia
nang walang pakinabang ng mga resulta ng Newborn screening
Well uh kasaysayan at pisikal na pagsusuri uh
Ang katibayan ng anemia ay maaaring humantong sa amin sa diagnosis
pero kailangan namin ng laboratory exams para uh uh
gawin ang diagnosis ng
kumpletong diagnosis ng alpha thalassemia
at kasama ang iyong CBC at rbc
ito ay uh uh
makikita mo ang uh degree ng mataas na hypochromia
Microsatosis sa anemia
batay sa mga resulta ng iyong CBC at RBC sa sakit
at makikita mo sa slide na ito na
ang antas ng iyong hemoglobin ay mahusay na nakakaugnay
kasama ang
bilang ng iyong mga functional na gene
hindi tulad ng makikita mo sa unang graph
kung mayroon kang isang normal na uh genotype
walang mutations tapos may normal kang indibidwal
nang walang anumang katibayan ng hemolysis o anemia
walang abnormalidad sa uh mo
uh level mo
uh mean cell volume o ang MCV mo o ang mean cell mo uh
Ang mga monogloping na konsentrasyon ay ipinakita sa iyong uh
Mga index ng RBC no
So pero normal no
walang genetic
walang mga abnormalidad sa gene o mga antas ng volume ngunit bilang
habang bumababa ang bilang ng mga functional genes
makikita mo na ang mga halaga ng iyong ammogular
Ang pagiging MCV mo m m C H ay nababawasan din
ito ay maaari ding maging maliwanag
sa pagsusuri ng iyong peripheral smear
kung saan makikita mo ang hypochromia
Microcytosis target na pagbuo ng cell
uh makikita mo ang paminsan-minsang mga sphere site at sa uh
paglamlam ng iyong pahid ng iyong makinang na magaspang na asul
makikita mo ang inclusion bodies
ngayon uh ang iyong mga antas ng hemoglobin A2
hindi sa pamamagitan ng paggamit ng HPLC at capillary electroforesis maaari
wala ka ring makikitang pagbaba
wala sa iyong hemoglobin A2 level
at ito ay may kaugnayan nang maayos
sa dami ng functional genes uh
uh kasali at uh
ito ay isang halimbawa ng isang matanda uh
electrophoresis ng hemoglobin
iyong hblc at capillary electrophoresis na nagpapakita
Pagpapakita ng presensya ng iyong hemoglobin H
ngayon
maaari mong partikular na masuri ang alpha thalassemia gamit
uh mga pamamaraan ng molekular
at ito ang karaniwang uh uh diagnostic uh na paraan
uh sa molecular biomolecular analysis K
ngayon pumunta tayo sa alpha thalassemia management
sana sa malapit na hinaharap
magkakaroon kami ng kumpletong walang data sa aming registry
ang mga uri ng alpha thalassemia na mayroon tayo
pati na rin ang paggamit ng molekular na ito
paraan ng pag-diagnose ng alpha thalassemia
ang mga karaniwang mutasyon na hahantong o ay um
naobserbahan sa ating bansa
Paano natin pinamamahalaan ang palasemia para sa alpha salassemia
hindi na kailangan ng paggamot dahil sila ay
wala silang anemia o baka may anemia sila
na maaaring maging napaka banayad
at ang mga carrier ng alpha salassemia na ito ay gumagamot gayunpaman
dapat maayos na magtrabaho
No uh lalo na kung nagkakaroon sila ng anemia
kasi
Maaaring may magkakasamang kakulangan sa nutrisyon
at minsang na-diagnose na may uh
Mga anemia sa kakulangan sa nutrisyon
pagkatapos ay dapat silang tratuhin nang naaayon
gayunpaman ang prophylactic iron ay hindi dapat
hindi kailanman ibibigay sa mga carrier
walang alpha alacemia
lalo na ang mga nasa panganib na umunlad
sobrang karga ng bakal
paano ang sakit na immoglobin H
maaari itong maging banayad hanggang malubhang karamdaman
at depende ito sa mutation
nakakaimpluwensya sa klinikal na kalubhaan
ang uri ng delusional ay may mas banayad na sakit
na may pasulput-sulpot na pagsasalin ng dugo
gayunpaman
ang hindi delusional na uri ay may katamtaman hanggang malubha
Anemia na naging omegaly
Maaaring mangailangan ito ng mga regular na pagsasalin sa maagang pagkabata
hanggang late adulthood at dahil dito uh
Regular transmission maaari silang magkaroon ng iron overload
ngayon para sa Hydrox fatales uh
hindi ito tugma sa buhay
ngunit sa ilang uh institusyon
Mga pagsasalin ng intrauterine
kasunod ng maagang pagtuklas
Nagresulta sa pagsilang nitong nonhydropic uh
mga sanggol at ang mga sanggol na ito uh ay nabubuhay
mabubuhay dahil sa interbensyong ito
ay mabubuting kandidato para sa kanya
At ang patula stem cell transplant transplantation
ngayon ay genetic counseling at untenatal diagnosis
ay magagamit sa karamihan ng bahagi ng uh
Timog Silangang Asya at ito ay mahalaga upang maiwasan uh
Perpetration ng sakit pati na rin uh
pagkakaroon ng anak na may hydroxphatales
ngayon halimbawa
kung mayroon kang isang ama na may banayad na anemia ay isinasaalang-alang
uh ang katangian ng portal acemia
pagkakaroon ng uh dalawang gene na nawawala
at isang ina na walang palatandaan at sintomas ng anemia
pero uh naging magulang na sila
wala o laging may pagkakataon na magkaroon ng anak
No of uh pagkakaroon ng hemoglovine age disease
uh para sa bawat kapanganakan o para sa bawat pagbubuntis
isang 25% na posibilidad na magkaroon ng anak na may multiple H disease
ngayon ay magkakaroon ng mga batang walang anemia
No normal walang genes na nawawala
pwede naman eh
mga batang may silent carrier o uh na may alacemia tatlo
gayunpaman kung ang isa sa carrier ay isang homozygal
pagkatapos ay ang panganib ng pagkakaroon ng hemoglobin
Ang sakit sa edad ay tumataas sa 50%
para sa bawat pagbubuntis at kapag ang parehong mga magulang
magdala ng alpha salascemia mutation
pagkatapos ang ganitong uri ng mutation
ang panganib ng kanilang mga supling na magkaroon ng hemoglobin Barts
Hydrospitalis ay 25% kaya mahalagang italegrate
kung alam mo ang uri ng alpha celestinia
mayroon kang uri ng mutation
para mapayuhan ang mga magulang
tungkol sa pagbubuntis ng ina
ngayon mahalaga din yan
posisyon sa komunidad
ay kasangkot sa pamamahala ng mga Palestinian
mga indibidwal ng isa
na may isa sa iba 't ibang anyo ng katangian ng polycemia
Maaaring ganap na kasing sintomas
hindi alam ang kanilang diagnosis
at magkaanak sa ibang mga indibidwal na may pareho
katangian
sa gayon ay nagpapatuloy ang kaguluhan sa loob ng komunidad
Napakahalaga sa isang uh na alam ito ng mga manggagamot
at iyon
sila ay sinanay sa pagsusuri at pamamahala ng
dahil ito ay may katulad na pagtatanghal sa iba
Mga karaniwang sakit na nagdudulot ng anemia
tulad ng nutritional anemis at talamak na pagkawala ng dugo
So alam ng Nissan Phosayne anemis uh
sinabi ng lahat bilang kakulangan sa bakal
Where us in Pala meron tayong telesemia
at siyempre dapat malaman ng mga manggagamot
kung paano tugunan ang mga pangmatagalang komplikasyon ng anemia
sa sobrang karga ng bakal
at nangangailangan ito ng multi specialty na pangangalaga
Under well formulated guidance
Ang pagbabala ay mabuti sa pangkalahatan
Para sa mga asymptomatic at may masamang anemia
ngunit ang kinalabasan para sa hemoglobin H disease ay variable
lalo na ang pangmatagalang problema ng akumulasyon ng bakal
na maaaring maging isang mas matinding problema
para sa nondeletional na uri ng alpha cell acemia
at siyempre sa pangkalahatan ay hindi
ito ay maaaring depende sa kamalayan
at pagkakaroon ng mga sistema ng pangangalagang pangkalusugan
nilagyan upang tugunan ang batas
ito pangmatagalang komplikasyon ng sakit pati na rin
ito ay pampublikong kalusugan uh implikasyon
sa buod ay ipinakita ko ang alpha thalassemia
ang pagtatanghal na ito
Patolohiya ng patho pati na rin ang diagnosis at pamamahala
at ito ang aking mensahe sa pag-uwi
alphasal acemia
kaya bakit mo ipinamahagi sa buong mundo
ito ay isang klinikal na makabuluhang kalusugan
uh problema sa Southeast Asia
o umiiral ang mga malubhang variant ng sakit
at mayroong apat na pangunahing phenotypes
ang tahimik na carrier dalpathel acemia
3HBH sakit at hydrosphetolysis Vitalis
at ang klinikal na kalubhaan ay mahusay na nauugnay
na may antas ng kakulangan sa alpha globin chain
na bunga ng molekular
mga depekto sa alpha globin gene
Ang diagnosis ay kinumpirma ng parehong laboratoryo
at mga molecular technique at ang genetic at antinatal
uh mahalaga ang genetic at antinatal counseling
upang maiwasan ang pagbubuntis na may mga bahagi ng mogulbin
With Ali syndrome na nagiging sanhi ng unang kamatayan
mga posisyon at desisyon
at ang edukasyon sa komunidad ay mahalaga
sa pag-iwas
sa pamamahala ng pangmatagalang komplikasyon
maraming salamat
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