Hb H (ß4) disease in Çukurova, Southern Turkey

PubMedID: 17486510In this study, 32 patients with Hb H (ß4) disease have been identified. Three different ?-thalassemia-1 (thal) determinants; nine with the -17.4 kb (MED I) type, 12 with the -20.5 kb type and 10 with the -26.5 kb (MED II) type were characterized. Of the 32 patients, 19 had the 3.7 kb deletion and one had the 4.2 kb deletion in trans to ?-thal-1 determinants. Only one patient, homozygous for the polyadenylation signal (poly A) site (PA 1) mutation, was identified to be associated with Hb H disease. The other patient had the poly A (PA 1) mutation in trans to the MED I (-17.4 kb) determinant. The 5 nt (nucleotide) deletion was present in three patients, two of them in the same family; this mutation was found in association with the MED II (26.5 kb deletion). The other patient had the -5 nt mutation in trans to the MED I (-17.4 kb) determinant. An unstable hemoglobin (Hb) variant [Hb Adana, codon 59 (C›A)] was present in association with the ?-thal-1 deletion (20.5 kb) in two adults and caused a severe type of Hb H disease. Five patients with Hb H disease had the genotype - -MED II/?PA 2? one had a Hb S heterozygosity (- -MED II/?PA 2? + Hb AS). A patient with Hb H disease (- -MED I/-?3.7) also had Hb S trait. Copyright © Informa Healthcare.Çukurova Üniversitesi: TF2005BAP3This project was supported by the Çukurova University Research Grant TF2005BAP3

Preliminary data on preimplantation genetic diagnosis for hemoglobinopathies in Turkey

PubMedID: 17486511Hemoglobinopathies are the most common genetic diseases in Turkey. Sickle cell anemia is prevalent in the Çukurova region but ß-thalassemia (thal) is seen all over the country. The incidence of sickle cell trait is 10% and ß-thal trait is 3.7% in this region. The families at risk for hemoglobinopathies have come to our center for prenatal diagnosis since 1992. In 15 years, 1,593 fetuses were examined. Four hundred and ten fetuses were found to be homozygous or compound heterozygous for sickle cell anemia and ß-thal. Some mothers had affected fetuses several times. Preimplantation genetic diagnosis (PGD) is an option to avoid the termination of a pregnancy. Studies for PGD of sickle cell anemia were done at Çukurova University Hospital, Çukurova, Adana, Turkey. Copyright © Informa Healthcare.Çukurova Üniversitesi: TF2002BAP85The authors would like to thank the following scientists from Çukurova University Hospital: Professor Dr. Kiymet Aksoy and Associate Professor Dr. Abdullah Tuli (Department of Biochemistry) for their contributions, Professor Dr. Yurdanur Kilinç (Pediatric Hematology Clinic) for the blood samples, Professor Dr. Fatma T. Ozgunen, Professor Dr. Cüneyt Evrüke and Professor Dr. Cansun Demir (Obstetrics and Gynecology Clinic) for the chorionic villus samples (CVS) and Professor Dr. Suna Solmaz and Professor Dr. Turan Çetin (IVF Unit) for the embryos. This project was supported by the Çukurova University Research Grant TF2002BAP85

Investigation of the mutation points and effects of some drugs on glucose-6-phosphate dehydrogenase-deficient people in the Erzurum region

PubMedID: 15558953We have carried out a systematic study of the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency on three samples of 1,183 children aged 0.5-6 years from Erzurum, in eastern Anatolia. Total genomic DNAs were isolated from the blood samples of a healthy person and the three persons determined with G6PD deficiency by examining the enzyme activity and hemoglobin ratio. Then PCR amplification of the entire coding region in eight fragments was carried out followed by Agarose gel electrophoresis. The 540-bp PCR fragment containing exons VI-VII and the 550bp PCR fragment containing exons XI-XIII were digested with EcoRI and with NIaIII, respectively. SSCP techniques for eight fragments (exons II, III-IV, V, VI-VII, VIII, IX, X, and XI-XIII) were employed to determine the mutations on the exons of the G6PD gene. A mutation occurred on the region of the exons 6 and 7 of one person (person-1) and exon 5 of two G6PD-deficient persons (person 2 and 3) examined. The sequential approach described is fast and efficient and could be applied to other populations. Effects of analgesic drugs on G6PD were studied on the purified enzyme (ammonium fractionation, dialysis and 2',5' ADP-Sepharose 4B affinity chromatography) for the healthy person and G6PD-deficient persons 1, 2 and 3. The effects of remifentanil hydrochloride, fentanyl citrate, alfentanil hydrochloride and pethidine hydrochloride, as analgesic drugs, on G6PD activity were tested. Although remifentanil hydrochloride, fentanyl citrate (I50 values; 1.45 mM and 6.1 mM, respectively) inhibited the activity of the enzyme belonging to the healthy person, they did not alter enzyme activity on two of the three persons with G6PD deficiency. Other drugs (alfentanil hydrochloride and pethidine hydrochloride) did not effect the enzyme activity of the healthy or G6PD-deficient children. © 2004 Taylor & Francis Ltd.This study has been made with approval and monetary aid (2000/63) of the Research Fund of Ataturk University

Hb Sarrebourg [ß131(H9)Gln›Arg, CAG>CGG] in Turkey

PubMedID: 21077765We describe Hb Sarrebourg [ß131(H9)Gln›Arg, CAG>CGG] in four heterozygous members of a Turkish family. It was associated with iron deficiency in the proband. © 2010 Informa Healthcare USA, Inc.Çukurova Üniversitesi: TF2007BAP42This project was supported by Çukurova University Research Grants TF2007BAP42&43 and TF2009BAP1. This study was presented at th

Prenatal diagnosis of sickle cell anemia and ß-thalassemia in southern Turkey

PubMedID: 19065329Hemoglobinopathies are the most common genetic diseases in Turkey. The incidence of sickle cell trait is 10.0% and ß-thalassemia (ß-thal) trait is 3.7% in the Cukurova region of southern Turkey. Sickle cell anemia is prevalent in the Cukurova region, but ß-thal is seen all over the country. A prenatal diagnosis center was established in 1992 at Adana, Turkey, for the prevention of sickle cell anemia and ß-thal. Fifteen hundred and seventy-five fetuses were examined at the Cukurova University Hospital, Adana, Turkey. Three hundred and eighty-six fetuses were diagnosed as homozygous or compound heterozygous for sickle cell anemia and ß-thal. A total of 15 different ß-thal mutations were characterized in the parents. The incidence of the IVS-I-110 (G > A) mutation accounted for about 50.0% of the parents with ß-thal trait. Twenty-four different genotypes were observed in this study. A total of 286 fetuses were diagnosed with homozygous sickle cell disease, 57 fetuses were ß-thal homozygotes, 25 fetuses were compound heterozygotes with Hb S [ß6(A3)Glu›Val, GAG > GTG], and 18 of the fetuses were double heterozygotes for ß-thal mutations. Copyright © Informa Healthcare USA, Inc.Çukurova Üniversitesi: TF2005YL2, TF2001U35, TF2003LTP8, TF2002BAP85The authors thank the following scientists from the Obstetrics and Gynecology Clinic at Çukurova University Hospital, Adana, Turkey: Professor Dr. Fatma T. Ozgunen, Professor Dr. Cuneyt Evruke and Professor Dr. S. Cansun Demir for the chorionic villus sampling (CVS). This project was supported by Çukurova University Research Grants TF2001U35, TF2002BAP85, TF2003LTP8 and TF2005YL2. This study was presented at the 7th Balkan Meeting on Human Genetics, Skopje, Republic of Macedonia, August 31–September 2, 2006

Identification of two rare ß-globin gene mutations in a patient with ß-thalassemia intermedia from Azerbaijan

PubMedID: 23510507ß-Thalassemias are an inherited group of disorders of hemoglobin (Hb) and comprise the most common monogenic disorders in Azerbaijan. They are extremely heterogeneous at the molecular level. Here we report the first identification of a patient who is a compound heterozygote for two rare ß-thalassemia (ß-thal) mutations, IVS-I-130 (G>C) and codon 37 (TGG>TGA). Copyright © Informa Healthcare USA, Inc.Elmin Inkişafı FonduDeclaration of Interest: This study was supported by the Science Development Foundation under the President of the Azerbaijan Republic [grant No. EIF-2011-1(3)-82/46/3]. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article