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Sickle Delta Beta Thalassemia - A Compound Heterozygous Sickle Cell Variant


Affiliations
1 General Medicine Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, West Godavari, A.P. -534005, India
2 Alluri Sitarama Raju Academy of Medical sciences, Eluru, India
3 Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru, India
4 Department of Pathology, Alluri Sitarama Raju Academy of Medical sciences, Eluru, India
5 Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru, Iceland
6 Department of Pathology in Alluri Sitarama Raju Academy of Medical sciences, Eluru, India
     

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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
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  • Sickle Delta Beta Thalassemia - A Compound Heterozygous Sickle Cell Variant

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Authors

G. Swarnalatha Devi
General Medicine Alluri Sita Ramaraju Academy of Medical Sciences, Eluru, West Godavari, A.P. -534005, India
V. Deepthi
Alluri Sitarama Raju Academy of Medical sciences, Eluru, India
P. VivekSagar
Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru, India
M. Ananta Satyanarayana
Department of Pathology, Alluri Sitarama Raju Academy of Medical sciences, Eluru, India
K. Anand Rao
Department of General Medicine, Alluri Sitarama Raju Academy of Medical sciences, Eluru, Iceland
B. A. Rama Krishna
Department of Pathology in Alluri Sitarama Raju Academy of Medical sciences, Eluru, India

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