Thalassemia - Is There A Possible Cure?

What Is Thalassemia?

They are a group of autosomal recessive inherited conditions where there is a deficiency or absence in the synthesis of one of the two polypeptide chains that make up the normal adult human hemoglobin molecule (hemoglobin A), resulting in reduced hemoglobin in red cells leading to anaemia. .

Thalassemia = Thalasa (sea) and Haima (blood)

Thalassemia syndromes are named according to the globin chain affected.

Globin gene defects can lead to thalassemia, and globin gene defects can lead to thalassemia.

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How Can Thalassemia Be Diagnosed?

Symptoms of hemolytic anemia are the first to appear, including pallor, and hepatosplenomegaly - directly from birth in thalassemia. Whereas in thalassemia these symptoms appear several months after birth with the disease.

Investigation Work

1. Laboratory investigations classically reveal microcytic, hypochromic red blood cells (average corpuscular volume <70 fL), which do not respond to iron supplementation.

2. Second-line testing involves the separation and measurement of hemoglobin fractions with high-performance liquid chromatography (HPLC) or capillary electrophoresis.

3. Third-line testing at the DNA level by standard Gap-PCR technologies or by direct DNA sequencing.

Can Thalassemia Be Prevented?

• Prevention of thalassemia is based on public awareness of the disease, detection of carriers, genetic counseling and prenatal testing.

• Carriers of thalassemia should be counseled to estimate their risk of hydrocephalus.

• All first-degree relatives of a patient suffering from thalassemia should also be offered testing and counselling.

Treatment

Asymptomatic Carrier

Carriers do not require any specific treatment. However, they should be evaluated for iron deficiency, and iron supplements should be given only after iron deficiency has been confirmed.

Thalassemia intermedia

• Patients with thalassemia intermedia or hemoglobin H disease are monitored for the progress of complications that may result from chronic hemolytic anemia.

• Symptoms usually develop when hemoglobin levels remain below 7.0 g/dL.

• Blood transfusions may be required during rapid growth, infection-related aplastic crisis and pregnancy.

• Indications for regular transfusions include developmental impairment and skeletal malformations. If hypersplenism develops, splenectomy is indicated.

Thalassemia Major

• This is the most severe form of the disease and requires intensive management with regular blood transfusions to maintain the hemoglobin level >9.5 mg/dL.

• Due to regular blood transfusions, iron overload occurs in these patients, so regular iron chelation is required.