Hemoglobin Agenogi ‑ A rare abnormal beta globin chain variant.
Date
2016-01
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
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 HbA2 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 HbA2 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.
Description
Keywords
Agenogi, beta, variant
Citation
Sharma Sunita, Sharma Geetika, Chandra Jagdish, Colah Roshan. Hemoglobin Agenogi ‑ A rare abnormal beta globin chain variant. Indian Journal of Pathology & Microbiology. 2016 Jan-Mar 59(1): 99-101.