M. Aksoy

β-Thalassemia in Turkey

A review is presented of the various β-thalassemia alleles observed in nearly 191 patients with β-thalassemia major and their 182 heterozygous relatives. Determination was by gene amplification and dot-blot hybridization with synthetic probes, specific for 27 different mutations. Eighteen mutations have been observed; six of these acount for nearly 83% of all thalassemia abnormalities (Table I). A new mutation, i.e. a G ↣ C mutation at the acceptor splice site of IVS-I, was found in one teenager who was homozygous for this disease. the high consanguinity among the families was considered the main reason for the high number of patients with a homozygosity for the IVS-I-110 (G ↣ A) mutation. Combinations of different mutations were present in many patients; some were mildly affected because of the specific mutation present on one chromosome. Combinations of classical β-thalassemia and an abnormal hemoglobin mainly concerned Hb S. Hbs Knossos and Lepore were rare occurrences. A comparison of hematological da...

Different Types of Beta-Thalassemia Intermedia

20 patients with β -thalassemia intermedia classified according to the results of genetic studies are presented. (1) 9 patients with β -thalassemia intermedia homoz

Aplastic anemia due to chemicals and drugs: A study of 108 patients

To illustrate the etiologic role of drugs and chemicals in the development of aplastic anemia, we analyzed 108 cases of aplastic anemia among 3,715 hematologic patients during a ten-year period at the hematology section of Istanbul Medical School. Among these 3,715 patients, 695 had leukemia, a result indicating the relative rarity of aplastic anemia as compared with leukemia. Of the 108 patients, 58.3% were male and 41.7% were female. Their ages ranged from six months to 82 years. Pancytopenia was severe in 42.6% of the patients, and moderate or mild in 57.4%. Bone marrow was hypocellular in 84 patients, normocellular in 16, and hypercellular in eight. In 52 (48.1%) of the patients with aplastic anemia, the following etiologic factors were implicated: benzene (25 patients), antirheumatic drugs (ten), chloramphenicol (four), chloramphenicol plus hepatitis or chromosome anomalies (two), thiamphenicol plus sulfonamide (one), antituberculous drugs (three), daraprim (three), insecticides (two), hepatitis (one), and sulfonamide (one). Data indicate that the degree of bone-marrow cellularity is not always related to functional capacity, and numerous agents may have etiologic roles in the development of aplastic anemia.

β-Thalassemia Intermedia in Two Turkish Families is Caused by the Interaction of HB Knossos [β27(B9)ALA→SER] and of HB City of hope [β69(E13)Gly→Ser] with B°-Thalassemia

We have studied a few members of two Turkish families, who had a β-thalassemia of the intermediate type. An abnormal hemoglobin was found in both families, which when present in association with β°-thalassemia was considered to be the primary cause for the increased severity of the disease. In the first family this variant was Hb Knossos [β27(B9)Ala→-Ser] which occurred together with the frameshift in codon #8 type of β°-thalassemia. This compound heterozygosity, observed for the first time in the Turkish population was characterized by a considerable increase in Hb F production, mainly of the Gγ type, as expected for a chromosome with haplotype IV. In the second family, the variant was Hb City of Hope [β69(E13)Gly→Ser] which was present in combination with an unknown type of β-thalassemia. The increase in Hb F production in the compound heterozygote was minimal. Reversed phase high performance liquid chromatography and the DNA amplification-synthetic oligonucleotide probe procedure were major tools in id...

Some notes about HB Q-India and HB Q-Iran

(1986). Some notes about HB Q-India and HB Q-Iran. Hemoglobin: Vol. 10, No. 2, pp. 215-219.

beta-Thalassemia intermedia homozygous for normal hemoglobin A2 beta-thalassemia. Study in four families.

Four homozygotes for beta-thalassemia with normal hemoglobins A2 and F were studied. The absence or scarcity of transfusion requirement and comparatively low hemoglobin F content were the most important findings. Both parents of 3 patients showed the findings of beta-thalassemia with normal hemoglobins A2 and F. Biosynthetic studies in 2 patients and their both parents showed moderate or mild beta-chain deficiency. The possible reason for this comparatively mild course of a beta-thalassemia syndrome lies in a mild deficit in beta-chain production.

Clinical and Hematological Evaluation of two δ0 δ0 - Thalassemia Homozygotes

Two homozygous δ0 β0-thalassemia patients, one with the GγAγ type and the other with the Gγ type, and their heterozygous parents are described. Red cell indices among the heterozygotes with the GγAγ type of δ0β0-thalassemia were markedly different from those in heterozygotes with the Gγ type. However, the imbalance in in vitro hemoglobin synthesis was quite similar in the two heterozygous conditions. The same was observed for the homozygous patients; the in vitro chain synthesis was severely imbalanced as seen in β-thalassemia major. The clinical and some of the hematological findings were milder in the Gγ-δ0 β0-thalassemia homozygote than in the GγAγ - δ0 β0-thalassemia homozygote. The death of a sibling of the Gγ - δ0 β0-thalassemia homozygote with a diagnosis of thalassemia major suggests that both types of δ0 β0 -thalassemia could follow a severe clinical and hematological course. The discovery of the Gγ type of δ0 β0-thalassemia in a Turkish child shows that two types of δ0 β0 - thalassemia can be fo...

Hemoglobin H Disease in two Turkish Females and one Iranian Newborn

Recent advances in molecular biology has resulted in the characterization of different forms of α-thalassemia (α-thal). Deletion, or occasionally dysfunction, of one or both α globin genes, which are located on the short arm of chromosome #16 (l), will lead to an α chain deficiency with variable alterations in red cell indices. α-Thal-2 or αα/-α results from deletion of one of the two a globin genes, i.e. either the leftward or 4.2 kb deletion involving the α2 globin gene or the rightward or 3.7 kb deletion which involves the 3′ segment of the α2 gene, the 5 ′ segment of the a1 gene and intergenic DNA. α-Thal-1 or αα/- results from larger deletions involving segments of DNA which contain both the α2 globin gene and (part of) the α1 globin gene. The various types are due to misalignment between two strands of DNA from two separate chromosomes during meiosis followed by an unequal crossover generating chromosomes with a single (or no) functional a globin gene or with triplicated a globin genes (2, and refer...