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Double heterozygosis for hemoglobin C—beta thalassemia: Description of a Spanish family Hemoglobin C—beta thalassemia in a Spanish family
Author(s) -
Casado Angela,
Pellicer A.,
Olmeda F.,
Hors Pilar,
GonzalezSotos M. Asuncion,
Carmona M. Soledad,
LopezFerńandez M. Encarnacion
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb01180.x
Subject(s) - hemoglobin , thalassemia , hemoglobinopathy , hemolysis , hemoglobin a2 , hemolytic anemia , genetics , medicine , biology
A Spanish family is described with two abnormal genes: 1) hemoglobin C in heterozygosis with normal hemoglobin, introduced by the subject's mother, and 2) heterozygotic beta‐thalassemia for which the father is a carrier. In the subject and his sister, both abnormal genes coincide with the presence of hemoglobin C and hemoglobin F, simulating homozygosis for hemoglobin C. The clinical condition shows medium intensity chronic hemolysis. In the subject's brother, mother and grandmother, simple heterozygosis of hemoglobins A‐C is seen, with no apparent clinical manifestations. The father shows subjaundice with some acute hemolytic episodes.