A 25-year female presented with mild pallor and moderate hepatosplenomegaly. Her hemoglobin was 92g/L and fetal hemoglobin level was 65%. She has not received any blood transfusion till date. She is most likely to be suffering from:
Ans. is 'b' Thalassemia intermedia The symptoms and the investigations of the patient point towards the diagnosis of thalassemia intermedia.Thalassemia intermedia (Geno type bdeg/b or b+/b+) :-Clinical FeaturesAnaemia (moderate to severe), seen after 2 years of age. The Hb level is usually (6-10%).Moderate hepatosplenomegaly can be seenAnisocytosis and poikilocytosisThe characteristic feature is that patient can survive without blood transfusions. Due to abnorm al synthesis of adult Hb (HbA), the level of HbA and Hb F is increased.Level of various Hemoglobin in thalassemia intermedia-HbA - reduced (20-40%)HbF - increased (60-80%)HbA2 - increasedSo it is clear that the diagnosis is Thalassemia intermedia.Now let's see the other options.Thalassemia :Thalassemia major can also have the same presentations but 2 important points rule it out.In thalassemia major the patient cannot survive without transfusions. Blood transfusion is a must for the survival of the patientThe fetal Hemoglobin level is greater than 90%.Hereditary persistence of fetal hemoglobin :This condition is characterized by continued synthesis of high level of HbF in adult life.No other abnormalities (ie. anemia or hepatosplenomegaly) are present in the patient even if the total Hb is replaced by Hb FHemoglobin D homozygous stateHemoglobin D is an abnormal hemoglobin and occurs in two forms:Homozygous state andHeterozygous state * Hemoglobin D heterozygous state- no abnormality is seen * Hemoglobin D homozygous state:In this condition 95% of the body's hemoglobin is HbDLevels of HbA2 and HbF remain normalClinically pt. presents with mild splenomegaly and mild anemia.
Thalassemia major
Thalassemia intermedia.
Hereditary persistent fetal hemoglobin, homozygous state.
Hemoglobin D, homozygous state.
Blood