An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene.
In a family of Spanish origin, five individuals presented a heterozygous alpha(0)-thalassemia (alpha-thal)-like phenotype. All had a -alpha(3.7) deletion with the recombinant alpha gene carrying the Hb Suan-Dok [alpha109(G16)LeuArg] mutation, proposed to be thalassemic. Thus, the abnormal chromosome carried an alpha(0)-thal-like allele that has to be taken into account for genetic counseling and prenatal diagnosis. The possibility of Hb H disease or hydrops fetalis should be considered when this allele is associated with alpha(+)-thal or with another alpha(0)-thal, respectively. Other described genotypes associated with Hb Suan-Dok are discussed.
Moradkhani
Kamran
K
INSERM, U841, Créteil, France. Kamran.Moradkhani@inserm.fr
Mazurier
Elodie
E
Giordano
Piero C
PC
Wajcman
Henri
H
Préhu
Claude
C
D000328:Adult; D000369:Aged, 80 and over; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011995:Recombination, Genetic; D013030:Spain; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C065341:hemoglobin Suan-Dok