Beta - Thalassemia

Department of hematology
BETA- THALASSEMIA
Amal Manas
M2052
INTRODUCTION
• Beta thalassemia is a genetic disorder characterized by
reduced production of hemoglobin, the protein in red blood
cells that carries oxygen to cells throughout the body.
• Hemoglobin is made up of two types of protein chains: alpha

chains and beta chains. Beta thalassemia results from
mutations in the genes responsible for producing beta chains.
Etiopathogenesis
• Genetic Mutation: Beta-thalassemia results from mutations in the
HBB gene, which provides instructions for making the beta-globin
protein. These mutations can lead to reduced or absent production
of beta-globin chains, causing abnormal hemoglobin synthesis.
Etiopathogenesis
Autosomal Recessive Inheritance:
Beta-thalassemia is inherited in an autosomal
recessive manner, meaning that individuals must
inherit two abnormal copies of the HBB gene
(one from each parent) to develop the disorder.
Carriers of one abnormal copy usually do not
show symptoms but can pass the mutated gene
to their offspring.
Etiopathogenesis
Reduced Beta-Globin Production:
Mutations in the HBB gene can disrupt the
production of beta-globin chains or result in the
production of non-functional beta-globin. This leads
to an imbalance in the production of alpha and beta
globin chains, affecting the formation of
hemoglobin tetramers (HbA) and causing
ineffective erythropoiesis.
Etiopathogenesis
• Hemolysis and Anemia:

The imbalance in globin chain synthesis results
in the formation of unstable hemoglobin
tetramers, leading to premature destruction of
red blood cells (hemolysis) and subsequent
anemia. The bone marrow attempts to
compensate for the reduced red blood cell count
by increasing erythropoiesis, which can lead to
bone marrow expansion and skeletal deformities
in severe cases.
Beta thalessmia syndromes
• Beta-thalassemia major (also known as Cooley's anemia): This is the

most severe form, where the individual has little to no beta-globin
production. It usually presents early in childhood and requires lifelong
blood transfusions and iron chelation therapy to manage symptoms
and prevent complications.
• Beta-thalassemia intermedia: This form is less severe than beta-
thalassemia major, with a milder reduction in beta-globin production.
Individuals with beta-thalassemia intermedia may not require regular
blood transfusions but still experience symptoms such as anemia,
fatigue, and potential complications.
• Beta-thalassemia minor (also known as beta-thalassemia trait): This is
the mildest form, where the individual carries one mutated gene and
one normal gene. People with beta-thalassemia minor often have no
symptoms or only mild anemia.
Beta –Thalassemia : Major Clinical Features
• Anemia manifests 6 to 9 months after birth, as Hb synthesis

switches from HbF to HbA
• Marked erythroid hyperplasia → Expansion of bones →Facial
bone deformity ( Mongoloid facies/Thalasemia facies ) &
malocclusion of jaw
• Extramedullary hematopoiesis involving liver, spleen &
lymphnodes → massive enlargement
• Iron overload (Repeated blood transfusions & increased
absorption of dietary iron) → Hemosiderosis involving mainly
heart, liver & pancreas
Other clinical signs
• Delayed growth and development: Children

with severe forms of beta thalassemia may
experience delays in growth and development.
• Increased risk of infections: People with beta
thalassemia may be more susceptible to
infections due to their weakened immune system.
• Jaundice: Excess breakdown of red blood cells
can lead to jaundice, characterized by yellowing
of the skin and eyes.
Laboratory Findings
1. Anemia usually severe (Hb 3 to 6 gm/dl)
2. Peripheral blood : Marked anisocytosis with

predominant microcytes, severe hypochromia,
basophilic stippling, plenty of target cells & nucleated
RBC
3. Reticulocytosis
4. decreased MCV, MCH & MCHC

Laboratory Findings
5. Increased Serum bilirubin (Unconjugated)

6. Osmotic fragility – Decreased (Increased
resistant to saline hemolysis)
7. Bone marrow : Erythroid(Normoblastic)
hyperplasia / Increased iron stores
8.Hb electrophoresis :
-Increased HbF & HbA2
-complete absence or small amounts of HbA
Treatment
• Blood Transfusions: Regular blood transfusions can help replace the
deficient hemoglobin in individuals with beta thalassemia major or
intermedia. This helps to alleviate anemia and its associated symptoms.
• Iron Chelation Therapy: Since frequent blood transfusions can lead to iron
overload in the body, iron chelation therapy is often necessary to remove
excess iron. This can help prevent organ damage due to iron buildup.
• Folic Acid Supplements: Folic acid supplements are commonly prescribed to
help the body produce healthy red blood cells.
• Bone Marrow Transplant: A bone marrow transplant, also known as
hematopoietic stem cell transplantation, can be curative for some individuals,
particularly those with severe beta thalassemia major. This involves
replacing the faulty stem cells with healthy ones from a donor.

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Department of hematology

• Hemoglobin is made up of two types of protein chains: alpha

• Hemolysis and Anemia:

• Beta-thalassemia major (also known as Cooley's anemia): This is the

• Anemia manifests 6 to 9 months after birth, as Hb synthesis

• Delayed growth and development: Children

2. Peripheral blood : Marked anisocytosis with

4. decreased MCV, MCH & MCHC

5. Increased Serum bilirubin (Unconjugated)

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