منابع مشابه
Homozygous haemoglobin D Punjab.
A homozygote for the gene controlling Hb D Punjab is described. The diagnosis is supported by the peptide analysis of the haemoglobin and the examination of both parents. There was no anaemia or reticulocytosis and there was balanced synthesis of both the alphaA- and betaD-globin chains in reticulocytes. However, the oxygen affinity of the haemolysate had a small but significantly higher oxygen...
متن کاملComplete suppression of haemoglobin A synthesis in haemoglobin D Los Angeles--beta thalassaemia.
A family study is reported in which all three siblings were shown to be doubly heterozygous for haemoglobin D Los Angeles and beta thalassaemia, which resulted in a complete suppression of haemoglobin A synthesis. This demonstrates the effects of genetic interaction which occur when the genes for haemoglobin D Los Angeles and beta thalassaemia are both transmitted to the offspring. The importan...
متن کاملHaemoglobin sickle d punjab: - a case report.
Haemoglobin S D-Punjab is a rare compound heterozygous haemoglobinopathy characterised by the presence of two β globin gene variants: Β6(GAG→GTG) and Β121(GAA→CAA). These patients' clinical and haematological features mimic haemoglobin S disease. We describe the first case of doubly heterozygous HbSD-Punjab from Malaysia managed with regular blood transfusion at the age of one. This case highli...
متن کاملHemoglobin D Los Angeles in Two Caucasian Families: Hemoglobin SD Disease and Hemoglobin D Thalassemia
11 EMOGLOBIN D LOS ANGELES, a2,82121g1m,l (Or D Punjab) is one of I I the more common hemoglobin variants, since it occurs in about 3 per cent of the Sikhs of the Punjab2 and sporadically in other ethnic groups, particularly those that have had considerable contact with India. In electrophoresis and chromatography, this variant is indistinguishable from hemoglobin S; however, it lacks the insol...
متن کاملHemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia.
11 EMOGLOBIN D LOS ANGELES, a2,82121g1m,l (Or D Punjab) is one of I I the more common hemoglobin variants, since it occurs in about 3 per cent of the Sikhs of the Punjab2 and sporadically in other ethnic groups, particularly those that have had considerable contact with India. In electrophoresis and chromatography, this variant is indistinguishable from hemoglobin S; however, it lacks the insol...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1974
ISSN: 1468-6244
DOI: 10.1136/jmg.11.4.341