First description in Tunisia of a point mutation at codon 119 (CCT-->TCT) in the alpha1-globin gene: Hb Groene Hart in association with the -alpha3.7 deletion.
Herein we describe the case of a Tunisian girl who presented with 3% Hb Bart's (gamma4) at birth. At the age of 3 years, she showed microcytosis and hypochromia in the absence of iron deficiency. The first step of molecular analysis was to test for the common Mediterranean mutations and the classical -alpha3.7 deletion was found in the heterozygous state. Since this finding could not explain the level of Hb Bart's at birth, or the hypochromia and microcytosis, all the alpha-globin genes were sequenced. This revealed a rare point mutation at codon 119 (CCT-->TCT) in the alpha1-globin gene, identified for the first time in Tunisia, and which has previously been described as an unstable hemoglobin (Hb) variant named Hb Groene Hart [alpha119(H2)Pro-->Ser (alpha1)]. Here the -alpha3.7/alpha(alpha)119(CCT-->TCT) genotype is responsible for the alpha-thalassemia (thal) trait phenotype.
Siala
Hajer
H
Laboratoire de Biochimie Clinique, Hôpital d'Enfants, Tunis, Tunisie.
Ouali
Faida
F
Messaoud
Taieb
T
Sfar
Rachida
R
Fattoum
Slaheddine
S
D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D017384:Sequence Deletion; D014416:Tunisia; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C475066:hemoglobin Groene Hart; D005914:Globins; C030448:hemoglobin Bart's