Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype.
Mild alpha-thalassemia, a common condition in many ethnic groups, presents with hematologic abnormalities almost identical to those found in iron deficiency. We report a new alpha globin chain variant associated with an alpha-thalassemia phenotype in two members of a Turkish family.
Harteveld
Cornelis L
CL
Steen
Gerard
G
Vlasveld
L Thomas
LT
van Delft
Peter
P
Giordano
Piero C
PC
D000328:Adult; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D014421:Turkey; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C510835:hemoglobin Bronovo; D005914:Globins