TYPE German Ggamma(Agammadeltabeta)°-Thal (see Fig. 16)
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).
1. Anagnou, N.P., Papayannopoulou, Th., Nienhuis, A.W., and Stamatoyannopoulos, G.: Nucleic Acids Res., 16:6057, 1988.

This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without permission in writing from the Author.