Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype

Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype

We report a relatively mild phenotype associated with two siblings who are compound heterozygotes for Hb S and a β°‐thalassemia mutation due to a ˜1.4‐kb deletion of the 5′ region of the β‐globin gene. Each is found to have unusually high levels of Hb A2 and Hb F, accounting for more than 20% of the...

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Veröffentlicht in:American journal of hematology 1991-10, Vol.38 (2), p.108-112
Hauptverfasser: Waye, John S., Chui, David H. K., Eng, Barry, Cai, Shi‐Ping, Coleman, Mary B., Adams, Junius G., Steinberg, Martin H.
Format: Artikel
Sprache:eng
Schlagworte:
Hb S/β°‐thalassemia
mild phenotype
β‐globin gene deletions
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Zusammenfassung:We report a relatively mild phenotype associated with two siblings who are compound heterozygotes for Hb S and a β°‐thalassemia mutation due to a ˜1.4‐kb deletion of the 5′ region of the β‐globin gene. Each is found to have unusually high levels of Hb A2 and Hb F, accounting for more than 20% of the total hemoglobin. These may interfere with intracellular Hb 5 polymerization, thus leading to a mild clinical course.
ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.2830380207