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Biomedical subjects

C Altay

Publications and source records attributed to C Altay.

At least 145 records · Page 8Linked to original sources
PubMedDate not supplied

Prenatal diagnosis of hemoglobinopathies in Turkey: Hacettepe experience.

Prenatal diagnosis of hemoglobinopathies was performed in 250 fetuses at risk for hemoglobinopathies. The main diagnostic procedures were in vitro hemoglobin synthesis analysis in fetal blood and analysis of DNA obtained from chorionic villus samples. Sixty-six percent of the fetuses were at risk for beta thalassemia major and 28% for sickle cell anemia. Beta thalassemia mutations were heterogenous, and 51 fetuses examined by the DNA technique were found to be at risk for at least 20 different combinations.

Anemia, Sickle Cell↗
PubMedDate not supplied

Changes of hemostatic factors in patients with hemoglobinopathies.

In this study, protein C (PC), protein S (PS), heparin cofactor II (HCFII), prothrombin fragment 1+2(PF1,2), thrombin-antithrombin III complex (TAT), von Willebrand factor (vWF) and thrombomodulin (TM) were investigated in 13 patients with beta thalassemia intermedia (TI) not requiring transfusion, six patients with sickle cell disease (SCD), and seven patients with HbS-beta thalassemia (S-BT) who were not in crisis. These hemostatic parameters were also studied in 12 healthy children assigned as a control group. Protein C and Protein S (PC-PS) were found to be decreased in TI patients and normal in S-BT patients. PC was decreased in SCD patients. In the patients with TI and SCD, the mean PF1,2 level was elevated, whereas the TAT level was not statistically different from that of the control group. These results suggested that in patients with hemoglobinopathies: a) decreased natural anticoagulants and b) enhanced procoagulant activation have been encountered. Other unexpected and interesting results of this study are the decreased vWF and elevated HCFII levels in all three patient groups.

Adolescent↗
PubMedDate not supplied

Autoimmune hemolytic anemia with warm antibodies in children: retrospective analysis of 51 cases.

In this paper, research based on 51 children with a positive antiglobulin test is presented. Eighteen of the children had acute anemia and 33 had chronic anemia. Two clinical patterns were distinguished: an acute transient type and a prolonged chronic type. Corticosteroid therapy was effective in all acute cases but its results were variable in the chronic cases. The acute form was more frequent in young children, while chronic autoimmune hemolytic anemia (AIHA) occurred mainly among children at puberty. In the chronic form of the disease, it was sometimes necessary to add immunosuppressive drugs and in two cases to perform a splenectomy.

Acute Disease↗
PubMedDate not supplied

Beta-globin haplotype and XmnI polymorphism at position G (gamma)-158 and HbF production in Fanconi's anemia.

BACKGROUND: Patients with aplastic anemia show to a variable degree an increase of the red blood cell volume and percentage of HbF. The extent of HbF reactivation in sickle cell anemia and thalassemia major is related to the presence of XmnI polymorphism at -158 G (gamma). In this study, we have investigated whether in Fanconi's anemia the increase of the HbF is also related to the XmnI polymorphism. METHODS: Restriction site polymorphisms in the beta-globin gene cluster were analyzed to define the beta-globin haplotype. The presence of a C --> T substitution at position -158 G (gamma) was investigated by XmnI digestion. RESULTS: We found that patients with the XmnI site at -158 G (gamma), which was contained either in the 5' -+-++ or in the rare -+--- sub-haplotype, tend to have higher HbF and MCV values. The differences between XmnI positive and XmnI negative patients were highly significative (p less than 0.0025) for the MCV values, but barely significant for HbF levels (p less than 0.05). CONCLUSIONS: Our results suggest that in Fanconi's anemia both the extent of HbF reactivation and the fetal-like erythropoiesis, which is responsible for high MCV, are at least partially related to the beta-globin haplotype.

Erythropoiesis↗
PubMedDate not supplied

Acute lymphoblastic leukemia in a child with hemoglobins S and Q-Iran.

A 13-year-old girl with acute lymphoblastic leukemia is presented. The peripheral smear showed, in addition to lymphoblasts, marked anisocytosis, poikilocytosis, and polychromasia. In vitro sickling test was positive. Hemoglobin electrophoresis at pH 9.0 on starch gel revealed the presence of hemoglobin A, hemoglobin S, and a band with a mobility of hemoglobin A2. Structural analysis revealed the presence of hemoglobin S and an alpha-chain variant, hemoglobin Q-Iran. The patient attained remission with the initial therapy administered but a relapse occurred five months later. Our study indicates the need for detailed investigation of leukemia patients in which abnormal hemoglobins are prevalent.

Child↗
PubMedDate not supplied

Malignant hyperthermia in a patient with sickle cell anemia.

A sixteen-year-old male with sickle cell anemia and congenital strabismus developed malignant hyperthermia a few minutes after the administration of succinylcholine, used as the general anesthetic for corrective eye surgery. The patient's hemoglobin S level was reduced to fifteen percent before the operation. He recovered uneventfully within a few hours. Increased serum creatinine phosphokinase activity and pathological changes observed in the muscle biopsy along with strabismus suggest that the patient had an inherited susceptibility to malignant hyperthermia.

Adolescent↗
PubMedDate not supplied

Prenatal diagnosis of sickle cell anemia using PCR and restriction enzyme Dde I.

Prenatal diagnosis of sickle cell anemia was carried out in four fetuses using DNA technology. Fetal chorionic villus specimen were obtained at the 10th week of pregnancy from women at risk of giving birth to children with sickle cell anemia. Whole cellular DNA was obtained and the part of the DNA presumed to have a mutation increased after PCR was performed. After the application of Dde I restriction enzyme, mini gel electrophoresis was performed. The study of the electrophoretic patterns of the DNA indicated that one of the four fetuses was unaffected, one was a carrier and the remaining two were affected.

Anemia, Sickle Cell↗