Abstract

BETA THALESSEMIA MAJOR; RARE HAEMATOLOGICAL DISORDER

Ramesh Bhandari*, Sharad Chand and Varun Lal

ABSTRACT

Introduction: The thalassemias are a group of inherited autosomal recessive diseases. In β thalassemias, there is a reduced or absent production of the globin β chain. More than 100 β-Thalassemia mutations have been identified, and they tend to produce severe anaemia. Heterozygotes are usually symptomless, whilst homozygotes are more severely affected. Case presentation: A 7 year old male paediatric patient appears in paediatric ward with complaints of facial puffiness since 8 days, hurried breathing associated with cough and fever increasing during walking and running. He is K/C/O β-Thalessemia major since the age of 6 months and done packed red blood cells transfusion 3 times in past. No any significant family history is present. On examination he is having facial puffiness, pedal edema (+++), pallor (+++) and icterus (++). Per abdominal examination reveals distension of abdomen and palpable liver (6cm). On lab Investigation his CBC reveals microcytic hypochromic anemia (Hb-4.2 gm%) with anisopoiklocytosis in haemolytic process, HbA – 30.5%, HbF – 66.3 % hence diagnosed as Beta thalessemia major with severe anemia and hepatosplenomegaly. Treatment: He was treated with packed cell transfusion 150 ml on alternative day (total 2 times), Inj, Furosemide 20mg/ml BD, Tab. Paracetamol 250 mg TDS, Inj. Ceftriaxone 500 mg IV, Inj. Amikacin 150 mg IV BD.

Keywords: ?-thalessemia, Anemia, packed cell transfusion.