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A Unique Thalassaemic Syndrome: Homozygous α‐Thalassaemia + Homozygous β‐Thalassaemia
Author(s) -
Loukopoulos Dimitris,
Loutradi Aphrodite,
Fessas Phaedon
Publication year - 1978
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1978.tb01109.x
Subject(s) - ineffective erythropoiesis , hemoglobinopathy , erythropoiesis , beta thalassaemia , globin , medicine , pathophysiology , thalassemia , anemia , hemolytic anemia , genetics , biology , immunology , hemoglobin
The disturbed balance of globin chain synthesis is a major factor in the pathophysiology of the thalassaemic disorders; this concept is strongly supported by the study of a patient displaying an extreme but symmetrical deficit of both major types of chains α and β. The patient had a mild clinical picture but presented a striking hypochromia (MCH 10 pg) with compensatory erythrocytosis (RBC 10 12 l.). Study of the propositus and his family by haematological, biochemical and biosynthetic techniques indicates that the patient carries two α‐ and two β‐thalassaemia genes resulting in balanced globin chain synthesis; in addition, several members of the family carry two or three abnormal genes. During observation a change in the haematological pattern occurred with a shift towards more intensive β‐chain and away from γ‐chain synthesis; this appeared with be associated with improvement of his anaemia through more effective erythropoiesis.