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Biomedical subjects

C Altay

Publications and source records attributed to C Altay.

At least 127 records · Page 7Linked to original sources
PubMedDate not supplied

Cholecystosonography in children with sickle cell disease: technical approach and clinical results.

Forty-five children with sickle cell anemia were studied with meticulous cholecystosonograms using a 5-MHz thyroid transducer. Good-quality images were obtained. The most informative and useful view was the left-side-down decubitus study with the ultrasound gantry angled 45% to the anteroposterior axis. Rotating the patient rapidly through 360 degrees did not increase the information content of the examination. We found that one third of a random group fo children with sickle cell anemia will have gallstones and one fifth will have"sludge". A kinked deformity of the gallbladder may simulate a gallstone. Neither age, sex, weight, physical findings (except for hepatomegaly), nor a variety of biochemical measurements of the blood will be of much value in predicting gallbladder disease in any given patient.

Adolescent↗
PubMedDate not supplied

Chronic hemolytic anemia associated with glucose 6-phosphate dehydrogenase (Guadalajara)1 159 C --> T (387 Arg --> Cys) deficiency associated with Gilbert syndrome in a Turkish patient.

The case of an 8-year-old male child with severe kernicterus sequelae is presented in this paper. The child's hemoglobin value varied between 6.0 and 10.8 g/dL and his reticulocyte count ranged between 3.4 and 46.0% during the steady-state condition and hyperhemolytic crisis, respectively. A chronic hemolytic type of red cell G6PD deficiency was diagnosed. DNA studies indicate that the mutation was G6PD Guadalajara 1159 C --> T (387 Arg --> Cys) that is situated at the NADP binding site. Additionally, extra nucleotides of (TA) in the A(TA)n TAA motif of the promoter region of the uridine diphosphate-glucuronosyltransferase gene (UGT-1 A) were found to be homozygous in the patient. The coexistence of Gilbert syndrome with a chronic type of G6PD deficiency was suggested as a cause of neonatal hyperbilirubinemia leading to kernicterus.

Anemia, Hemolytic↗
PubMedDate not supplied

Vitamin B12 absorption test and oral treatment in 14 children with selective vitamin B12 malabsorption.

Oral vitamin B12 (VB12) absorption was studied in 12 patients with selective VB12 malabsorption and in 6 age-matched healthy controls. Serum VB12 level was measured before and 3 h after oral administration of VB12 100 or 1000 micrograms. After administration of 1000 micrograms of VB12 an appreciable increase in the serum VB12 level was observed in patients as well as in controls. The mean of the increase in the serum VB12 level did not differ between patients and the controls (273 +/- 203 pg/mL, 180 +/- 71 pg/mL, respectively P > .05). Twelve patients previously treated by parenteral VB12 were switched to, and 2 newly diagnosed patients were started on, oral VB12 treatment of 1000 micrograms given every 2 weeks. Hematological parameters and serum VB12 levels remained stable after switching to oral therapy in the 12 patients. In the two newly diagnosed patients anemia was cured by orally administrated VB12. This study lends further support to the use of megadoses of VB12 as an alternative treatment for selective VB12 malabsorption.

Administration, Oral↗
PubMedDate not supplied

Oral treatment in selective vitamin B12 malabsorption.

PURPOSE: The efficacy of oral treatment with megadose vitamin B12 in a patient with selective vitamin B12 malabsorption is studied. PATIENTS AND METHODS: An 8-year-old boy with megaloblastic anemia due to selective vitamin B12 malabsorption is presented. His history was significant for anemia of 4 years duration, requiring transfusion on two occasions. On admission, the Hb was 7.9 g/dL, WBC 6 x 10(9)/L, mean corpuscular volume 124 fl, red cell distribution width 16.8%, platelets 156 x 10(9)/L, reticulocyte 0.04%, and the serum vitamin B12 level 87 pmol/L. There was proteinuria. Replacement treatment with oral B12 1,000 micrograms/daily was instituted. RESULTS: Reticulocytosis was observed on the third day of treatment, which was followed by a gradual increase in Hb level to 12 g/dL in 3 weeks. A Schilling test performed after a 5-day interruption of therapy was compatible with malabsorption. CONCLUSIONS: Our study suggests that the oral route is as effective as the parenteral route when vitamin B12 is given at a dose larger than that of parenteral therapy.

Administration, Oral↗
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Effect of alpha-gene numbers on the expression of beta-thalassemia intermedia, beta-thalassemia and (delta beta)0-thalassemia traits.

The effects of variations in alpha-gene numbers on phenotypical expression of beta-thalassemia are assessed in 11 subjects of 8 families. The study indicates that coexistence of alpha-thalassemia (-alpha3.7/alpha alpha) decreases the HbF in IVSI-6 homozygote and in delta beta thalassemia trait and may ameliorate the disease in beta-thalassemia compound heterozygotes associated with one mild and one severe beta-thalassemia mutation. Coexistence of alpha-gene triplication is associated with an increase in HbF value and may increase the severity of beta-trait or beta-thalassemia intermedia. The effects of alpha-gene triplication on phenotypic expression of beta-thalassemia trait may not be uniformly observed in every subject affected with a similar genotype.

Adolescent↗
PubMedDate not supplied

Premarital screening of hemoglobinopathies: a pilot study in Turkey.

To identify premarital couples who are carriers for hemoglobinopathies, a screening study was conducted in one of the southern cities of Turkey. For 2,113 couples, total blood count, Hb A2 and Hb F levels were determined and hemoglobin electrophoresis was performed. The frequency of Hb S was 4.6% and beta thalassemia 2.3%. In 35 of 2,113 prospective families, both partners were found to be carriers. During the 4-year follow-up period, prenatal diagnosis was sought in 10 pregnancies of these at-risk families. This study indicated that premarital screening is a very useful tool for detecting carrier couples. The immediate beneficial effect of this study was the application of prenatal hemoglobinopathy diagnosis from the first pregnancy.

Blood Cell Count↗
PubMedDate not supplied

Genotype-phenotype analysis in HbS-beta-thalassemia.

Genotypes and phenotypes were studied in 31 Turkish HbS-beta-thalassemia patients. In 19 patients the beta-thalassemia mutations were beta+ and in 12 the beta 0 phenotype. The IVSI-110 mutation was found in 45% of the patients. IVSI-1, beta 39, IVSII-1 and FSC8 are the genotypes associated with beta 0-thalassemia. Hematological data were evaluated at the time of diagnosis and 4 years after diagnosis. The mean HbF value was 13 +/- 7.8% at diagnosis and 9.7 +/- 7.8% 4 years later. A significant negative correlation was observed between the age of the patients and the HbF value (p < 0.05). No statistically significant differences were observed between the mean of hematological parameters in beta(+)- and beta 0-thalassemia patients except for the mean HbF value which were 10.7 +/- 6.9 and 15.9 +/- 7.7% in beta(+)- and beta 0-thalassemia, respectively (p < 0.05). The study indicated that beta-thalassemia mutations in trans to the HbS mutation do not exert any beneficial effect on the manifestation of the disease.

Adolescent↗
PubMedDate not supplied

Another form of the hereditary persistence of fetal hemoglobin (the Atlanta type)?

The propositus in a Black family has elevated Hb-F and approximately equal amounts of Hb-A and Hb-S. Hematological and chemical studies of the propositus and his family show elevated Hb-F in the father and a sibling and sickle cell trait in the mother and another sibling. This family is believed to have a form of the hereditary persistence of fetal hemoglobin in which beta chains are produced in cis to the determinant.

Anemia, Sickle Cell↗
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Hb Hakkari or alpha 2 beta 2 31(B13)Leu-->Arg, a severely unstable hemoglobin variant associated with numerous intra-erythroblastic inclusions and erythroid hyperplasia of the bone marrow.

A severely unstable hemoglobin variant, Hb Hakkari or alpha 2 beta 2 31 (B13)Leu-->Arg, has been observed in a 5-year-old Turkish girl with a severe hemolytic anemia without Heinz body formation. A modest increase in liver and spleen size was present and the level of Hb F was a high 33%. The variant could not be observed in red cells and was only detected through sequencing of the amplified beta-globin gene and also by hybridization with specific oligonucleotide probes. The parents were normal, and it is assumed that the variant occurred as a de novo mutation. Smears from bone marrow aspirates showed numerous inclusion bodies in the erythroblast and, as a result, a erythroid hyperplasia. It is suggested that the hemoglobin variant which is unstable and is readily losing its heme group because one of the heme binding sites has been lost, precipitates in the erythroblasts, thus interfering with the maturation process and causing the severe anemia.

Anemia, Hemolytic, Congenital↗
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Reevaluation of iron absorption and serum ferritin in beta-thalassemia intermedia.

In order to reassess the need for iron chelation therapy in nontransfused patients with beta-thalassemia intermedia, serum ferritin level and ferrous iron absorption from the gastrointestinal system were measured in 43 (23 male and 20 female) patients (mean age 13.4 +/- 7.5). The mean hemoglobin value was 8.6 +/- 1.3 g/dL and serum ferritin 303 +/- 207 ng/mL. Absorption of ferrous iron salt was determined in 21 patients by measuring serum iron before and 3 hours after giving ferrous salt orally at 1 mg/kg. The means of the increase in serum iron values were 39 +/- 45, 105 +/- 46, and 224 +/- 112 micrograms/dL in patients with beta-thalassemia intermedia, normal subjects, and patients with iron deficiency anemia respectively. Differences in the means in three groups were significant (p < 0.001). This study shows that iron absorption from the gastrointestinal system as ferrous salt is not accelerated in patients with beta-thalassemia intermedia. The serum ferritin level in these patients is not high enough to necessitate iron chelation therapy.

Adolescent↗
PubMedDate not supplied

Imerslund-Gräsbeck syndrome coexisting with beta-thalassemia trait.

A 9-year-old female patient with Imerslund-Gräsbeck syndrome and heterozygosity for beta-thalassemia is presented. At admission the hemoglobin (Hb) was 7.2 g/dL; reticulocytes, 0.2%; red blood cell count (RBC), 2.3 x 10(12)/L; mean corpuscular volume (MCV), 80 fL; hemoglobin A2 (HbA2), 4.3%; fetal hemoglobin intervening sequence (IVS) (HbF), 1.9%. In the bone marrow aspiration smear, megaloblastic changes were observed; the Schilling test was compatible with malabsorption. DNA analysis revealed the presence of heterozygosity for the IVS-I-110 type of beta-thalassemia mutation. Five months after treatment with vitamin B12, Hb was found to be 12.8 g/dL; RBC, 5 x 10(12)/L; MCV, 63 fL.

Anemia, Megaloblastic↗
PubMedDate not supplied

Convulsion after blood transfusion in four beta-thalassemia intermedia patients.

Four children with beta-thalassemia intermedia ages 7 to 11 years developed a clinical picture characterized by headache, hypertension, convulsion, and cerebral hemorrhage after blood transfusion. Successive transfusions did not result in a similar picture. Factors responsible for this syndrome are discussed.

Cerebral Hemorrhage↗
PubMedDate not supplied

Familial selective vitamin B12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients.

Thirty-six patients with Imerslund-Gräsbeck syndrome are presented. The mean ages at presentation and diagnosis were 4.7 +/- 3.7 years and 7.2 +/- 4.2 years, respectively. The mean hemoglobin level was 5.8 +/- 2.2 g/dL, the mean cell volume was 104.9 +/- 11.6 fL, the white blood cell count was 4479 +/- 2022/mm3, and the serum vitamin B12 level was 96.9 +/- 73 pg/mL. At diagnosis, 5 of the 36 patients, aged 5 to 16 years, had neurologic symptoms. All the patients had severe megaloblastic changes in bone marrow precursor cells. Proteinuria was detected in 78% of them. Patients with proteinuria had a younger age of onset (P < 0.0001) and diagnosis (P < 0.001) compared with those without proteinuria. In all patients, vitamin B12 excretion unbound to intrinsic factor after a flushing dose of vitamin B12 was lower than normal, and there was no appreciable correction in urinary vitamin B12 excretion after binding of intrinsic factor. The impairment of vitamin B12 absorption studies in Schilling tests; however, showed great variation among patients. Serum haptoglobin values were close to zero in all patients, indicating the presence of that intravascular hemolysis in Imerslund-Gräsbeck syndrome. Variations among patients in the age of presentation, degree of impairment of vitamin B12 absorption, and presence or absence of proteinuria suggest a heterogeneity in etiology of Imerslund-Gräsbeck syndrome at the molecular level.

Adolescent↗
PubMedDate not supplied

Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia.

Six congenital hypoplastic anemia (CHA) patients from five families who have been followed from 2 months to 28 years are presented. Mild hypoplastic anemia in a 13-year-old girl was associated with clinodactyly of the fifth finger on both hands, shortness in the proximal phalanges on all fingers, and syndactyly between the second and third toes and short fourth toe on the right foot. These abnormalities, except for clinodactyly, have not been reported previously in CHA. In one of the five families genetic transmission was thought to be autosomal-dominant since both the father and the son had the disease. Therapy with corticosteroids was initiated in all patients at the ages of 3.5 months to 13 years. Complete or near-complete recovery of anemia was obtained.

Adolescent↗