H. Lehmann

Different types of alpha-thalassaemia and significance of haemoglobin Bart's in neonates.

Abstract The assumption that the α-chain gene is duplicated and that there are potentially two genes for α-thalassaemia per chromosome, one for each α-chain gene, can explain, among other things, why in some populations a high incidence of haemoglobin Barts (γ 4 ) can occur in newborn children without the correspondingly expected appearance of haemoglobin H disease and the haemoglobin Barts hydrops fetalis syndrome.

The amino acid sequence of human myoglobin and its minor fractions

The complete amino acid sequence of human skeletal myoglobin is described. That of heart myoglobin is found by homology to be the same. When myoglobin is prepared some minor fractions may be obtained besides the main component. They are shown to be artefacts arising from deamidations. The likely three-dimensional structure of human myoglobin is discussed, taking that of sperm-whale myoglobin as a reference. Human myoglobin is compared with the α- and β-chains of human haemoglobin. There is a noteworthy similarity of internal residues and haem contacts, but little resemblance of sites where the haemoglobin chains form dimeric and tetrameric contacts, when they become subunits of the haemoglobin molecule.

The Genetical Interpretation of Haemoglobin H Disease

The clinical and haematological data of nine patients with haemoglobin H disease, as well as of 16 members of their families, are reported. Pedigree study and haematological data permit the assumption

HÆMOGLOBIN SOUTHAMPTON, β106 (G8) Leu →Pro: AN UNSTABLE VARIANT PRODUCING SEVERE HÆMOLYSIS

Abstract A new mutation has produced a hemoglobin variant, Hb Southampton. The nature and position of the aminoacid substitution complicated its identification, but the resultant severe haemolytic anaemia correlates with the type of substitution and the associated instability of the molecule.

β-THALASSÆMIA, GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY, AND HÆMOGLOBIN D-PUNJAB IN PATHANS

Abstract Of 129 Pathans of the North-West Frontier of West Pakistan, 11 had glucose-6-phosphate-dehydrogenase deficiency, 5 had β-thalassaemia minor, and 1 was a haemoglobin A+D Punjab heterozygote.

Beta-thalassaemia and some rare haemoglobin variants in the highlands of Scotland.

A survey is described of 3968 individuals in the northern and western highlands of Scotland for haemoglobinopathies. Twenty-three abnormalities were found, involving 17 cases of beta-thalassaemia minor, 3 of Haemoglobin Koln, one man with Haemoglobin Lepore, and one case with Haemoglobin Hopkins 2. An infant with multiple birth abnormalities had a persistent high foetal haemoglobin. No examples of glucose-6-phosphate dehydrogenase deficiency of the red cells were discovered.

The Blood Groups and Haemoglobin of the Jews of the Tafilalet Oases of Morocco

Leveque (I955) and Mechali et al. (i957) have drawn attention to the unusual blood group frequencies of the Jews of the Tafilalet oases south of the Atlas mountains in Morocco, and especially to their extremely high frequency of blood group B. It was thought that this remarkable population merited further examination and therefore, with the cordial co-operation of Dr Leveque, the Cambridge University Expedition to Northern Africa in I962 visited the region and collected specimens for testing at the Blood Group Reference Laboratory. At the time of the investigation, the Jewish population of the Tafilalet oases was spread over an area of I0,000 sq. km of stone desert I00 km south of the Atlas Mountains. The combination of religion and geographical situation had led to a high degree of genetic isolation. To the south is the Sahara desert, to the north the Atlas Mountains. On the east side is the political boundary with Algeria, and to the west lie 200 km of stone desert before the next river bed is reached. The villages in the region are mainly centred around the dry bed of the river Ziz. In I965 Rosenbloom (I966) carried out a historical and demographic study of the same group ofJewish populations. In the short interval since I962 the situation had changed considerably and he reported that only a few hundred Jews remained in the whole area. This author gives a table of estimates of the Jewish population of the region at various dates from 1920 to I965, showing populations of many thousands up to 1949 and a catastrophic fall between then and i965, which he attributes to a declining economy as well as to uncertainty of Moroccan and Arab nationalism. After a certain point the difficulty of living a Jewish life arose in an area with so few remaining Jews. The emigration was first to the larger urban centres of northern Morocco and then to such places as France and Israel.