Beta-thalassemia is one of the most common genetic disorders in Turkey as well as in several other Mediterranean countries presenting microcytosis and hemolytic anemia. The city of Denizli is located in the inner part of the Aegean geographical region of Turkey. The beta-thalassemia incidence in Denizli province is in between 2.6-3.7% reported by different researchers. According to our results; the IVS-1/nt-110 (G>A) is the most frequent mutation type in our province the same as other geographical regions of Turkey. Here we report also two HbD-Los Angeles/beta-thalassemia combinations, which are HbD-Los Angeles/codon 39 (C>T) and HbD-Los Angeles/IVS-1/nt-1 (G>A), respectively. In conclusion, our preliminary results show the heterogeneity of the beta-thalassemia mutations in the province of Denizli.

The present study was undertaken to evaluate glutathione and its related enzymes in beta-thalassaemia major and to elucidate the effect of splenectomy on glutathione metabolism. The study includes three groups, those are: healthy individuals (n= 35) taken as control, a group of beta-thalassaemia major children with intact spleen (n= 29) and a group of splenectomized beta-thalassaemia major children (n= 11). Levels of reduced glutathione, glutathione peroxidase, glutathione reductase and glucose 6-phosphate dehydrogenases in erythrocytes were estimated in all groups. Levels of glutathione p< 0.001 and glutathione reductase p< 0.05 in thalassaemic groups significantly increased, whereas glutathione peroxidase levels p< 0.005 were significantly decreased when compared to control. Glutathione and enzymes levels followed the same pattern in splenectomized group when compared to nonsplenectomized one; however the difference between the various parameters was not significant. Glutathione and its redox enzymes were severely disturbed in thalassaemic patients. Splenectomy, however appears to have no role in influencing glutathione metabolism in betathalassaemia major children.

There is lack of information about leukemias in Yemen. The purpose of this study is to evaluate the pattern of adult leukemias at Al-Jomhori Educational Hospital in Sana’a, Yemen and to compare it with available data from Saudi Arabia. Data concerning age, sex, area of residence whether rural or urban and the type of leukemia were collected and analyzed. The age range of patients was 15 to 96 years. Diagnosis was based on bone marrow aspiration cytology and cytochemistry. Between November 1999 and November 2003 a total of 169 cases of leukemia were diagnosed. AML was the most common (39.1%) followed in descending order by CML (25.4%), ALL (23.7%) and CLL (11.8%). The male to female ratio was 1.14: 1 for all the types, 1.06: 1 for AML, 2.64: 1 for ALL, 0.65: 1 for CML and 1: 1 for CLL. AML was most common among patients aged 40-59 years old (30.3%) followed by ≥ 60 years old (25.8%). ALL was most common among young patients < 20 years old and CLL among elderly patients whereas CML was most common among middle aged patient. The rural to urban residence ratio was 2.8: 1 for all the types. Leukemia is an important health problem in Yemen and the pattern of adult leukemias is comparable in certain aspects to that reported from different regions of Saudi Arabia. The study recommends implementation of preventive, diagnostic and therapeutic strategies for leukemias in Yemen.

Compound heterozygosity for Hb Tyne and HbS, that is very rare, was identified by direct DNA sequencing of the beta-globin gene in a Turkish patient. Hematological investigation of a girl at the age of 9 due to the presence of HbS (40.7%) led to the identification of a compound heterozygosity at codons 5-6. This was found to be the result of substitution of cytosine (C) for thymidine (T) at the fifth position and a substitution of adenine (A) for thymidine (T) at the sixth position of the beta globin gene. As a result of these mutations, the order of amino acids at codons 5-6 was changed from Pro-Glu to Ser-Val, respectively. Since the co-inheritance of Hb Tyne and HbS had not been reported in literature before, our case set an example for identification of coinheritance of Hb Tyne and HbS for the first time. Therefore, such cases may be considered as an important example for understanding the structural variants of hemoglobin and may provide important clues for critical amino acids responsible for stabilization of hemoglobin tetrameric structure and genetic counseling.

A patient with myelodysplastic syndrome (MDS) with refractory anemia who had marked reticulocytosis in the absence of hemolytic anemia and/or blood loss is reported. Erythrocyte survival test showed that more than 50% of the patient’s reticulocytes were still present on day seven. This should be due to the prolongation of reticulocyte maturation in MDS, and is known as pseudoreticulocytosis. This phenomenon which mimicks hemolytic anemia is an unusual presentation of myelodysplastic syndrome, with only 7 patients with pseudoreticulocytosis being reported previously.

Chronic graft-versus-host disease (GVHD) of the liver usually presents as an indolent cholestatic syndrome associated with abnormalities in the skin, oral mucosa, and lacrimal glands observed beyond day 100 after allogeneic bone marrow transplantation. Because of its cholestatic nature, chronic liver GVHD is not generally considered in the differential diagnosis of markedly elevated serum transaminases and jaundice. However, sudden rise in serum transaminase levels after day 70 posttranplant should always raise the question of chronic liver GVHD. We report here two cases, in whom the presentation of chronic graft-versus-host disease of the liver strongly resembled acute viral hepatitis. Chronic GVHD of the liver should also be taken into account in the differential diagnosis of marked elevations of liver enzymes in allogeneic stem cell transplant recipients and appropriate diagnostic and therapeutic measures should be applied.