Hb Hinwil [β38(C4)Thr→Asn, A C C>A A C] Associated with β 0 -Thalassemia in a Sicilian Child
2008; Taylor & Francis; Volume: 32; Issue: 6 Linguagem: Inglês
10.1080/03630260802507766
ISSN1532-432X
AutoresLiana Cuccia, Laura Saieva, Zelia Borsellino, Maria Rita Marocco, Giovan Battista Ruffo, J. Riou, Marcello Capra,
Tópico(s)Erythrocyte Function and Pathophysiology
ResumoHemoglobins (Hbs) with high oxygen affinity play a well-known role among the causes of erythrocytosis. In 1996, a new Hb called Hb Hinwil or β38(C4)Thr→Asn was described. In carriers, it causes an increase in the number of red blood cells, total Hb, and hematocrit. Here we report the case of a patient, aged 10 months, whom we observed because of severe erythrocytosis. The family history of β-thalassemia (β-thal) inheritance, and the evidence in the patient of marked microcytosis, prompted us to perform molecular analysis to detect β gene mutations that revealed a codon 39 (C>T) (β0) mutation in the heterozygous state and the presence of the Hb Hinwil mutation on the other allele. We discuss diagnostic, clinical, prognostic, and therapeutic aspects of this rare condition, underlining the extreme difficulty in choosing therapeutic options because of a lack of similar reports in the literature.
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