Two New Thalassaemic Syndromes: a) Homozygous Alpha-Thalassaemia. b) Cooley-Like Disease due to Homozygous Elevated Hb A2 Without Microcythaemia
- 1 January 1964
- journal article
- research article
- Published by S. Karger AG in Acta Haematologica
- Vol. 32 (4) , 221-232
- https://doi.org/10.1159/000209590
Abstract
Two new syndromes are described due to interaction of thalassemic genes: a disease due to homozygous alpha-thalassemia and a disease due to homozygous elevated Hb A2 without microcythemia. The former disease differs from that described by Lie-Injo-Luan Eng because it occurs in early childhood and is not lethal notwithstanding a chronic severe anemia. The latter is similar to Cooley''s disease differing from this, however, in the very delayed course, the absence of micro-cytosis and increased osmotic resistance, the normal level of Hb F, the absence in the bone marrow of microerythroblastosis with negativity of Hotchkiss''s test.Keywords
This publication has 3 references indexed in Scilit:
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- Genetic Basis of the Thalassæmia DiseasesNature, 1959
- An Abnormal Substance Present in the Erythroblasts of Thalassaemia Major. Cytochemical InvestigationsActa Haematologica, 1954