Haemoglobin H disease due to (– –SEA) α‐globin gene deletion and α2‐codon 30 (ΔGAG) mutation: a family study

A Chinese family in which two siblings suffer from haemogloblin (Hb) H disease due to (– –SEA) α‐globin gene deletion and α2‐codon 30 (ΔGAG) mutation is described. Both siblings are transfusion‐independent and have survived to adulthood. In contrast to previous report of hydrops fetalis associated w...

Ausführliche Beschreibung

Bibliographische Detailangaben

Hauptverfasser:	Ma, S.K., Chan, A.Y.Y., Chiu, E.K.W., Chan, L.C.
Format:	Tagungsbericht
Sprache:	eng
Schlagworte:	Anemias. Hemoglobinopathies Biological and medical sciences Codon 30 mutation Diseases of red blood cells genotype haemoglobin H disease Hematologic and hematopoietic diseases Medical sciences phenotype SEA deletion
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!