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An α0-Thalassemia-Like Mutation: Hb Suan-Dok [α109(G16)Leu→Arg] Carried by a Recombinant −α3.7 Gene

In a family of Spanish origin, five individuals presented a heterozygous α0-thalassemia (α-thal)-like phenotype. All had a −α3.7 deletion with the recombinant α gene carrying the Hb Suan-Dok [α109(G16)Leu→Arg] mutation, proposed to be thalassemic. Thus, the abnormal chromosome carried an α0-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 α+-thal or with another α0-thal, respectively. Other described genotypes associated with Hb Suan-Dok are discussed.