International Journal of Contemporary Medicine
  • Year: 2014
  • Volume: 2
  • Issue: 1

Sickle Delta Beta Thalassemia -A Compound Heterozygous Sickle Cell Variant

  • Author:
  • G Swarnalatha Devi1,, V Deepthi2, P Vivek Sagar3, M Ananta Satyanarayana4, K Anand Rao5, B A Rama Krishna6
  • Total Page Count: 4
  • DOI:
  • Page Number: 196 to 199

1Professor and HOD, Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru

21st Year Post Graduate, Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru

33rd Year Post Graduate, Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru

4Assistant Professor, Department of Pathology, Alluri Sitarama Raju Academy of Medical sciences, Eluru

5Professor, Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru

6Professor, Department of Pathology, Alluri Sitarama Raju Academy of Medical sciences, Eluru

*Corresponding author: Swarnalatha Devi G, Professor & HOD, General Medicine, Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, West Godavari, A.P.-534005. E-mail: drswarnalathadevi@gmail.com

Online published on 11 March, 2014.

Abstract

Sickle cell disease occurs when an individual is homozygous for sickle cell mutation (β6-Glutamic acid β Valine) (HbS/A: 100/0; HbF: 2 - 25%). Heterozygous mutation results in sickle cell trait (HbS/HbA: 40/60). Inheritance of sickle cell gene along with mutations of α/β/δ genes in compound heterozygosis results in sickle cell variants. CASE REPORT: A 16year old male patient presented with fever, pain abdomen, anaemia, massive tender splenomegaly, unconjugated hyperbilirubinemia, microcytic hypochromic anaemia with sickle cells and target cells, elevatedHbF, HbS with normal HbA2 and decreased HbA.

Keywords

Sickle Cell Mutation, Compound Heterozygosity, Fever, Anaemia, Massive Splenomegaly, Unconjugated Hyperbilirubinemia