TYPE | German Ggamma(Agammadeltabeta)°-Thal (see Fig. 16) | ||
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CAUSE | A 52 kb deletion spanning from 1.5 to 1.9 kb from the 3' end of the Ggamma gene to 27 kb 3' to the beta gene. The deletion removes the Agamma, psibeta, delta and beta genes. The 5' breakpoint is similar to those of other types of Ggamma(Agammadeltabeta)°-thal, while the 3' breakpoint is close to the HPFH-3 and HPFH-4 deletions; 3.5 and 1.5 kb, respectively. | ||
DETECTION | Gene mapping with different enzymes and probes. | ||
PHENOTYPE | The phenotype was found to be consistent with those of other (Agammadeltabeta)°-thalassemias. Heterozygous individuals were asymptomatic and their hematological parameters are: Hb 12-14 g/dl; PCV 0.36-0.44 l/l; MCV 68.8-76.1 fl; MCH 22.2-24.1 pg; MCHC 31.6-32.7 g/dl; Hb F 9.9-12.5%; Hb A2 2.4-2.6%; Ggamma 84.0%; F-cell distribution 53.9-76.6% (heterocellurar). The RBC morphology is characterized by moderate microcytosis and hypochromia. | ||
DISTRIBUTION | This anomaly was found in three members of a German family (father, daughter, and grandaughter). |
REFERENCES | |||
1. | Anagnou, N.P., Papayannopoulou, Th., Nienhuis, A.W., and Stamatoyannopoulos, G.: Nucleic Acids Res., 16:6057, 1988. |