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CASE REPORT
Year : 2016  |  Volume : 59  |  Issue : 1  |  Page : 99-101

Hemoglobin Agenogi - A rare abnormal beta globin chain variant


1 Department of Pathology, Lady Hardinge Medical College and Hospital, New Delhi, India
2 Department of Pediatrics, Lady Hardinge Medical College and Hospital, New Delhi, India
3 Department of Hematogenetics, National Institute of Immunohematology, Mumbai, Maharashtra, India

Correspondence Address:
Geetika Sharma
House Number 362, Sector 8, Panchkula - 134 109, Haryana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.174844

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Haemoglobin (Hb) Agenogi is clinically asymptomatic, rare β-globin chain variant characterized by a substitution of glutamic acid by lysine at position 90 of β-chain. It elutes in the C-window on high-performance liquid chromatography (HPLC). We report a 10-year-old male with easy fatigability, lethargy, pallor, and mild splenomegaly. Hematological parameters revealed microcytic hypochromic anemia and mildly raised red blood cells count, suggestive of thalassemia trait. On HPLC, a predominant peak was observed in the C-window (82.6%) along with raised HbA 2 level (9.3%). Based on these findings, a possibility of HbC disease/β-thalassemia trait doubly heterozygous was considered. Family studies were advised. HPLC findings in father were suggestive of β-thalassemia trait, while both his mother and brother had an abnormal peak in the C-window of 42.7% and 40.8%, respectively, with elevated HbA 2 values of 5% and 4.9%, respectively. Direct DNA sequencing revealed intervening sequences 1-5 (G ; C) in father, confirming β-thalassemia trait. His mother and brother had heterozygous gene mutation at codon 90 of β-globin chain (G ; A) suggestive of Hb Agenogi. The child carried mutations for both β-thalassemia trait as well as Hb Agenogi.


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