TYPE | Belgian Ggamma(Agammadeltabeta)°-Thal (see Fig. 16) | ||
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CAUSE | The deletion spans ~50 kb, removing the 3' end of the Agamma, psibeta, delta, and beta genes. The 3' breakpoint of this deletion coincides with the 3' breakpoints of three other deletions in the beta-globin gene cluster, namely HPFH-3, HPFH-4, and the German Ggamma(Agammadeltabeta)°-thal. The 5' end of the deletion is very close to the 5' breakpoint of the Indian, Black, and Chinese Ggamma(Agammadeltabeta)°-thal. | ||
DETECTION | Gene mapping with different enzymes and probes. | ||
PHENOTYPE | Subjects heterozygous for the Belgian Ggamma(Agammadeltabeta)°-thal show microcytosis, a low MCV (61-73 fl), a low MCH, an increased alpha/gamma+beta chain ratio (1.5-2.8), elevated Hb F (14-23%), and normal Hb A2. Hb F consists of Ggamma chains and is heterogeneously distributed in the red cells. | ||
DISTRIBUTION | Found in a large Belgian family; delta°-thal, hereditary spherocytosis, and adenosine deaminase deficiency were also present, segregating independently in the same family. |
REFERENCES | |||
1. | Losekoot, M., Fodde, R., Gerritsen, E.J.A., van de Kuit, I., Schreuder, A., Giordina, P.C., Vossen, J.M., and Bernini, L.F.: Blood, 77:861, 1991. |