HbH Disease: An Under Diagnosed Disease in Eastern India: A Case Report

Anannya Ghosh, Sanchayan Sinha, Neepa Chowdhury, Sudeshna Baral, Kaushik Dey

Abstract: Introduction: Alpha Thalassemia is the most common single gene disorder, an autosomal recessive inheritance caused by large deletions and point mutations in the ? globin genes. resulting in the reduction or complete absence of ?-globin chain synthesis. A 33-year-old male patient came to the OPD with chief complaints of fever, dyspepsia, vomiting and extreme weakness. On examination he had moderate to severe pallor and mild Icterus. Materials and methods: He was detected to have HbH disease and on supravital stain he had beta chain tetramer. He also had features of haemolysis as evidenced by doing routine haematological parameters. The patient was treated with 2 units of PRBC transfusion, antibiotics, antipyretics and Ursodeoxycholic acid and referred to surgeon for opinion of treatment of his obstructive jaundice due to pigment stones present in gall bladder. Conclusion: The prognosis of HbH disease varies greatly depending upon the degree of Hb affection, haemolytic anaemia and the complications arising due to it. Prompt diagnosis and treatment is required to avoid complications any be during premarital genetic counselling or prenatal diagnosis.

Keywords: alpha thalassemia, haemolysis, anaemia