Thalassemia
About
Hemoglobin is the protein in red blood cells that carries oxygen; in thalassemia, gene defects reduce production of either alpha or beta protein chains of hemoglobin.
Because of this, red blood cells are small, fragile, and break down more easily, causing anemia and reduced oxygen delivery to tissues.
There are two major types
- Alpha thalassemia: due to reduced production of alpha chains; severity depends on how many of the four alpha-globin genes are affected.
- Beta thalassemia: due to reduced beta chain production; ranges from minor (trait) with mild or no symptoms to major (Cooley’s anemia) needing regular transfusions.
Symptoms
- Symptoms depend on type and severity and can include tiredness, weakness, pale skin, shortness of breath, jaundice, dark urine, and an enlarged spleen.
- Severe forms in children may cause failure to thrive, bone deformities (especially face and skull), delayed puberty, and frequent infections.
Inheritance And Diagnosis
- Thalassemia is autosomal recessive: a child gets the disease when both parents pass on an altered gene, while carriers (thalassemia trait) usually have mild anemia or no symptoms.
- Complete blood count and blood smear: show microcytic (small), pale red cells and anemia.
- Hemoglobin electrophoresis or HPLC and sometimes genetic tests: identify the exact thalassemia type and mutations.
Treatment
- Regular blood transfusions to maintain adequate hemoglobin.
- Iron chelation medicines to remove excess iron from repeated transfusions and prevent heart, liver, and endocrine damage.
- In selected cases, bone marrow (stem cell) transplant can be curative.
Prevention and practical points
- Couples from high‑risk communities should consider carrier testing and genetic counseling before or during early pregnancy.
- People with thalassemia major/intermedia need regular follow‑up for growth, bone health, heart, liver, hormones, and vaccination against infections.
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