A Phenotypically Unusual Hemoglobin H Disease Resulting from a Rare α-Globin Genotype (-SEA/-α27.6).

Abstract:

:Hemoglobin H (Hb H) disease is usually characterized by the existence of Hb H, which influences the degree of functional anemia. We here report a patient with a rare Hb H disease genotype (-SEA/-α27.6), who was observed to paradoxically have no detectable Hb H fraction on electrophoresis. To date, the reason why the quantity of Hb H component and the clinical presentation in Hb H disease vary widely is still incompletely understood. Our report demonstrates a possible explanation - the different degradation ability of excess β-globin chains, which might be regulated by the 27.6 kb sequence of α-globin gene.

journal_name

Ann Clin Lab Sci

authors

Ling LQ,Chen H,Yu SL,Chen S,Liu CN,Li Q,Wang MJ,Zhou J

subject

Has Abstract

pub_date

2018-11-01 00:00:00

pages

782-784

issue

6

eissn

0091-7370

issn

1550-8080

pii

48/6/782

journal_volume

48

pub_type

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