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Hemoglobinopathies

Haemoglobinopathies are genetically inherited disorders characterized by abnormal haemoglobin synthesis, which can be qualitative (e.g., sickle cell anemia) or quantitative (e.g., thalassemias). Sickle cell anemia is caused by a mutation in the HBB gene leading to abnormal red blood cells, while thalassemias involve reduced production of globin chains. Both conditions are inherited in an autosomal recessive pattern and require various diagnostic and treatment approaches, including genetic screening and blood transfusions.

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9 views31 pages

Hemoglobinopathies

Haemoglobinopathies are genetically inherited disorders characterized by abnormal haemoglobin synthesis, which can be qualitative (e.g., sickle cell anemia) or quantitative (e.g., thalassemias). Sickle cell anemia is caused by a mutation in the HBB gene leading to abnormal red blood cells, while thalassemias involve reduced production of globin chains. Both conditions are inherited in an autosomal recessive pattern and require various diagnostic and treatment approaches, including genetic screening and blood transfusions.

Uploaded by

yukthachandrika
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We take content rights seriously. If you suspect this is your content, claim it here.
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Haemoglobinopathies

P.Yuktha Chandrika
1st year M.Sc Human
Genetics
Andhra University
Definition:

The haemoglobinopathies are a group of


genetically inherited diseases characterised by
abnormalities, both quantitative and qualitative,
in the synthesis of haemoglobin(Hb).
They are more prevalent in some parts of the
world.
Structure of Haemoglobin
Qualitative Abnormalities
There is an alteration in the amino acid structure
of the polypeptide chains of the globin fraction of
haemoglobin.

The best known example is Hbs, found in Sickle


cell anemia.
SICKLE CELL ANEMIA
★ Definition:
● SCA is an inherited disease in which the erythrocytes
have an abnormal crescent shape, block small blood
vessels, and do not last as long as normal red blood cells.
● This condition occurs due to an abnormality of haemoglobin
molecules.
● It is most common in people of West and Central African
descent.
● Haemoglobin in SCA is HbS type.
★ Causes:

● Sickle cell anemia is caused by a mutation in both of the


HBB genes that code for beta subunit of hemoglobin.

● SCA is caused due to a point mutation in the sixth codon


that produces change in the amino acid from glutamic acid
to valine.

● Missense mutation - GAG to GTG; leading to the amino acid


substitution.
★ Mode of Inheritance:
➔ This condition is inherited in an autosomal recessive
pattern.
Symptoms:
Diagnosis:
● Genetic screening in newborn babies as they can help to
confirm a diagnosis.
It can tell whether one has one or two copies of the
sickle haemoglobin gene.
● Prenatal screening with amniotic fluid or tissue taken from
placenta.
● Blood test can be done in adults to check for hemoglobin
S.
Treatment:
➢ Management is usually aimed at relieving symptoms and
preventing complications.
➢ Treatment might include medication and blood
transfusions along with bone marrow transplant.
➢ Medications include antibiotics, pain-reducing medicines.
Quantitative Abnormalities
In quantitative abnormalities, the amino acid sequence is
normal but the polypeptide chain production is impaired or
absent for a variety of reasons.
Haemoglobin is less than normal.
Example : Thalassemias
📌The thalassemias are a group of genetic disorders of
haemoglobin synthesis which result from a reduced rate of
production of one or more of the globin chains of
haemoglobin.
1.Alpha thalassemia
2.Beta thalassemia
Mode of inheritance: Thalassemias:
Both alpha and beta thalassemias are inherited in autosomal
recessive pattern.
𝞪 thalassemia:
📌Reduced or no synthesis of alpha chains of haemoglobin
molecule.
📌Genetic disorders of alpha-chain synthesis result in
defective foetal (Hb F) and adult (Hb A) production.
📌In foetus: Deficiency of alpha-chains result in
production of excess gamma-chains.
📌In Adults: Deficiency of alpha-chains result in
production of excess beta-chains.
📌Distribution: Sub Saharan Africa, middle east,
Mediterranean region.
causes:
➢ HBA1 and the HBA2 genes are located on the short arm
of chromosome 16 (16p13.3).
➢ Alpha thalassemia is caused by mutations (deletion) in
two adjacent genes, the HBA1 and the HBA2 genes.
➢ Affected individuals may have a mutation or combination
of mutations in one gene, two genes, three genes, or all
four copies of these genes.
Types:
Hb H DISEASE
Hemoglobin H (Hb H) disease is a severe non-fatal form of
α-thalassemia syndrome.
One alpha gene is functional.
HbH is produced (made of four beta chains).
SYMPTOMS:
HbH disease causes mild to moderate anemia,
hepatosplenomegaly, and yellowing of the eyes and skin
(jaundice).
Diagnosis
Laboratory tests for the diagnosis of Hb H disease
include CBC, hemoglobin and DNA analysis.

Treatment:
Treatment consists of folic acid supplementation and
periodic blood transfusions when indicated.
Hydrops fetalis - most severe form
Hydrops fetalis is severe swelling (edema) in an unborn
baby or a newborn baby.
Serious fatal condition.
No functional alpha genes are present.
As a result gamma chains accumulate and form Hb Barts
(gamma tetramer).
Fluid buildup in fetal compartments, leading to death.
Diagnosis
● Ultrasound - This test uses sound waves to create
images of blood vessels, tissues, and organs.
● Amniocentesis - This test is done by removing some of
the amniotic fluid for testing.

Treatment:
● Direct transfusion of red blood cells.
● Removing extra fluid from around the lungs and
abdominal organs with a needle.
● Medicines to control heart failure.
Beta thalassemia:

📌 Beta thalassemia: Deficiency in beta


subunits of haemoglobin.
📌 Commonly seen in Mediterranean, Middle
East, Asia and Africa
📌 Three types of Beta thalassemia, minor,
major and intermedia which indicate the
severity of the disease.
causes

HBB gene is located on chromosome 11 at position p15.


Beta thalassemia is caused by mutations in the hemoglobin beta
(HBB) gene.
Individuals with beta thalassemia minor have a mutation in one HBB
gene, while individuals with the intermediate and major forms have
mutations in both HBB genes.
Diagnosis:
📌 A blood sample can be tested to measure the amount of iron in the
blood, which is often elevated in individuals with beta thalassemia.
📌 Molecular genetic testing can confirm beta thalassemia diagnosis.

Treatment:

📌 Regular blood transfusions


📌 Medications( to decrease the amount of iron in the body called
chelation therapy)
📌 Daily doses of folic acid
📌 Bone marrow transplantation
Thank You

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