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Biomedical subjects

H Kamuzora

Publications and source records attributed to H Kamuzora.

12 recordsLinked to original sources
PubMed1975

Recent developments in foetal haemoglobin research.

There have been numerous new contributions to the knowledge of foetal haemoglobin over the last few years. It is, therefore, timely to review them together. They throw light on the arrangement on the chromosome of non-alpha chain genes, and on the condition generally known as Hereditary Persistence of Foetal Haemoglobin (HPFH) and have contributed to other aspects of human ontogeny and physiology.

Adult↗
PubMed1975

A new cause of haemolytic anaemia in the newborn. A description of an unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130 trptophan yeilds glycine.

In a newborn twin with haemolytic anaemia an unstable fetal haemoglobin was found to be the cause. The anaemia improved spontaneously with the disappearance of the fetal haemoglobin. The new Hb F (alpha2gamma2) variant was shown to have a glycine at position 130 of the 146 residues of the gamma chain. This portion is inside the globin molecule and in all known normal globins it is occupied by a residue with a bulky hydrophobic side chain. Its replacement by glycine which has no side chain would be expected to cause instability. The human gamma-chains may either have a glycine or an alanine at position 136. Evidence is brought forward to suggest that in the abnormal chain position 136 is occupied by glycine.

Amino Acid Sequence↗
PubMed1975

Futher investigations of the gamma-chaina in a ghanaian adult, homozygous for hereditary perisitence of fetal haemoglobin. Isolation of gamma CB-3 peptides and Ggamma:Agamma ratio determination in human Hb E.

The gamma-chain in a Ghanain homozygous for hereditary persistence of fetal haemoglobin was considered to be of the Ggamma type on the basis of the amino acid analysis of gammaTp XIV (gamma133-144) of the Hb F of this subject [1]. Recently, the sequence of residues gamma134-137 of the gamma-chain of this subject was determined and found to contain some alanine at position gamma136. It is therefore of the Ggamma + Agamma type. A rapid technique for the isolation of gammaCB-3 (gamma134-146) peptides in human fetal haemoglobin for Ggamma:Agamma ratio determination is described.

Adult↗
PubMed1975

A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.

A 59-year-old man with beta-thalassaemia major is unusually well. He has no beta-chains in his haemoglobin but is heterozygous for the genes responsible for alphaA and for alphaG Philadelphia. In addition he is also heterozygous for the genes responsible for gammaF and a new gamma-chain, gamma75(E19) Ile-Thr, named gammaF Sardinia. It was not possible to isolate the mutant gamma-chain, but from the overall ratios of Ggamma-:Agamma-Chain and gamma75 Ile : gamma75 Thr, it could be inferred that the mutation had presumably occured in the Ggamma-chain. Some of the propositus' siblings have high levels of Hb A2, and it is suggested that they possibly carry a gene for Lepore chain with the deltabeta-crossover after residue delta126.

Chromatography, Paper↗
PubMed1975

Globin synthesis in subjects doubly heterozygous for hemoglobin G-Philadelphia and hemoglobin S or C.

To study the function of globin-chain genes, in vitro synthesis of globin was measured in reticulocytes concentrated from the peripheral blood of 7 subjects doubly heterozygous for an alpha-chain abnormality (Hb G-Philadelphia) and a beta-chain abnormality (Hb S or C). Each had a deficit of alpha-chain synthesis compatible with an alpha-thalassemia-like syndrome. The data are also compatible with the quantitative expression of variable reduplication of the alpha-chain locus in man.

Black or African American↗