Haematological and genetic observations have been made on 71 SS Eti-Turk patients and their relatives from Cukurova (southern Turkey) and of immigrant families in The Netherlands. Similar data were collected for 25 Black patients and their relatives from Surinam, Netherlands Antilles, and Kenya. Haematological and clinical results were the same for both groups; the haemolytic anaemia in the Turkish patients was as severe as in the others. Haplotyping, involving nine restriction sites, identified haplotype 19 (Antonarakis et al, 1984) as the major type among the Eti-Turks; this chromosome has previously primarily been observed among SS patients from West Africa. The suggestion that the beta S-chromosome among Eti-Turks originates from that area is supported by a relatively high incidence of alpha-thalassaemia-2 (the 3.7 kb deletion), also frequently present in the Black population of West Africa, and by the absence of other major haplotypes, such as types 20 and 3, characteristic for the beta S-chromosome in the population of Central Africa and Kenya, and in Senegal, respectively. The Saudi Arabian type of beta S chromosome in association with the haplotype 19 beta S chromosome was present in only one Eti-Turk patient; this 30-year-old female was mildly affected and exhibited a high level of fetal haemoglobin.

Among several hundred apparently healthy Yugoslavian adults with slightly elevated levels of fetal haemoglobin, we have identified two distinct abnormalities. (a) A G gamma A gamma(delta beta)0-thalassaemia heterozygosity with an approximately 15 kb deletion which involves part of the delta globin gene and the beta globin gene. This deletion is probably the same as that seen among Italians (Ottolenghi et al, 1982; Carè et al, 1984). (b) A nondeletion form of hereditary persistence of Hb F which is caused by a gamma globin gene triplication of the (+)G gamma.(+)G gamma.A gamma type. It is characterized by the presence of some 5% Hb F in the heterozygote containing nearly 100% G gamma chains. The C----T mutation at position--158 5' to the G gamma chain [(+)G gamma], identified through analyses of Xmn I digests, was present at both G gamma globin genes. This mutation is known to be associated with increased G gamma chain production (Gilman & Huisman, 1985), and thus is responsible for the increased G gamma chain production in these heterozygotes. The condition is different from the (+)G gamma.(+)G gamma nondeletion type of HPFH which has been observed in heterozygotes of two Black families, and is associated with the presence of 3-4% Hb F (with mainly G gamma chains) in heterozygotes.

Hematological and hemoglobin composition data are presented for seven Arabian SS patients with mild disease and with high Hb F levels varying between 21 and 34%. Four patients were homozygous for a beta S chromosome with a specific haplotype (#31). The data for these four patients were similar to those for three other SS patients (and for five patients reported earlier, Ref. 2) who were heterozygous for the same beta S chromosome (#31) and for a beta S chromosome with another haplotype (mainly #19). These data offer additional evidence indicating that the increased gamma chain production is specific for the beta S chromosome with haplotype #31. The similarities in hematological data and Hb F levels between these two groups of SS patients and the normal Hb F value in Hb S heterozygotes with beta S chromosome (#31) support the suggestion that the increased Hb F production mainly occurs in response to the anemia of the sickle cell disease.

Five adult SS patients from Qatar, Turkey, and South Africa with mild disease, had greatly elevated Hb F and specific patterns of polymorphic sites on their beta S chromosomes. One subject had an alpha-thalassemia (-alpha/-alpha). The haplotypes were the common type #19, associated with severe disease, and type #31, not seen thus far in an SS patient (numbering system of Antonarakis et al). The data suggest that modifications in the DNA of the beta S #31 chromosome promotes the synthesis of gamma chains.

No abstract

No abstract

7 cases of multiple myeloma with a history of exposure to benzene, radioactive iodine, chemotherapy for Hodgkin’s disease and of repeated injections of autovaccine to Staphylococcus albus hemolyticus are described. The relationship between the development of multiple myeloma and possible etiologic factors is discussed

No abstract