Prevalence of hepatitis B and C infections and HCV genotypes among haemophilia patients in ahvaz, southwest iran.

BACKGROUND: Transfusion-transmitted hepatitis is the most important cause of transmitted infections by the parenteral route in patients with haemophilia. OBJECTIVES: This study was performed to determine the prevalence of HBV, HCV, and different genotypes of HCV among haemophilia patients in Ahvaz city, southwest Iran. PATIENTS AND METHODS: A cross-sectional study was conducted on 87 haemophilia patients referred to the Hemoglobinopathy and Thalassemia research centre during February 2008 to March 2009. Patients, sera were tested for HBsAg and anti-HCV using ELISA and confirmed by PCR (HBV) and RT-PCR (HCV). HCV genotypes were determined with HCV genotype specific primers using HCV genotyping kit. RESULTS: The overall prevalence rate of HBsAg and anti-HCV were 1.1% (95% CI: 0-3.39) and 54% (95% CI: 43.5-64.4), respectively. Forty two of the anti-HCV patients (89.3%) were also HCV RNA positive. The prevalence of anti-HCV seropositivity was significantly higher (P = 0.0008) among patients who had started to receive transfusions before implementation of blood donor screening. Moreover, the number of transfusion were significantly associated with anti-HCV and HCV RNA positivity (P = 0.0041 and P = 0.023, respectively). The predominant HCV genotype among haemophilia patients in our region was 1a (26/42, 61.9%), although genotypes 1b and 3a were found in 26.1% (11/42) and 11.9% (5/42) of the patients, respectively. CONCLUSIONS: It appears stringent donor selection procedures reduced HCV infection in multi-transfused patients, but it is still serious risk for these subjects.

Renal function in transfusion-dependent pediatric beta-thalassemia major patients.

PURPOSE: In this study, the relationship between glomerular and tubular function and creatinine, glomerular filtration rate (GFR) and urine NAG in thalassemia major patients aged 7-16 years was investigated. DESIGN AND SETTING: This is a case-control study comprising 280 individuals [144 (51·4%), males; 136 (48·6%), females]. MATERIALS AND METHODS: Patients were divided in groups of 14 individuals and age groups of 7-16 years. Sodium excretion fraction, fraction excretion of potassium, calcium-to-creatinine and uric acid-to-creatinine ratios, and duration of specific blood transfusion were determined in all age groups receiving deferoxamine. RESULTS: GFR decreased with increasing age, but the correlation was not statistically significant. There was no significant correlation between the ferritin levels and the GFR changes. The mean value of NAG activity between thalassemic patients and controls has no significant difference. The difference in mean age of the groups with high NAG activity and normal NAG activity was statistically significant. Thirty-seven patients (52·1%) in the group with normal NAG activity, and 45 patients (6·25%) in the group with NAG activity above normal were observed with uricosuric effects with no significant difference. Four patients (6·9%) in the group with normal NAG activity and six patients (7·3%) in the group with NAG activity above normal were shown to have hematuria with no significant difference. The results show that the increase in serum ferritin is significantly correlated with the increase in NAG activity (P<0·001, r = 0·2). Of patients with normal NAG activity 1 (1·7%) and with NAG activity higher than normal, 13 (15·9%) cases experienced hypercalciuria that significant difference was existing. The data also indicated that the NAG changes do not correlate with GFR changes. CONCLUSION: The results showed that kidney dysfunction in thalassemia increases with increasing age, duration, and levels of blood transfusion and hypercalciuria. It is therefore recommended that the presence of severe renal dysfunction in thalassemic patients should be investigated using sensitive and specific tests, mainly NAG, to prevent progress towards the complications.

How to reach rapid diagnosis in sickle cell disease?

OBJECTIVE: Sickle cell disease (SCD) is a common hereditary disease in Iran. In developed countries, newborn screening programs have been established to ensure early diagnosis, but in most developing countries, screening is not performed and the diagnosis is often delayed. The aim of the present work was to investigate the clinical presentation of SCD in Iran and comparison of its hematologic indices with normal children. METHODS: The study included 44 pediatric patients (26 boys and 18 girls) with sickle cell anemia (SS), 27 sickle /ß°-thalassemia (Sß°), and 21 sickle /ß(+)-thalassemia (Sß(+)). Fifty seven healthy individuals matched with the patients were randomly selected as controls. FINDINGS: Mean age at diagnosis in SS group was 4.3 years. At the time of diagnosis all patients were anemic, 89% complained of painful crises. Hemoglobin(Hb) concentration, red blood cell (RBC) count and Hb×RBC product in SS group was significantly lower than in control group (P<0.001), mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) showed no significant differences. Hb×RBC product below 45 and MCH/RBC above 7 have the best sensitivity and specificity for differenting SS group and the control normal group (91 and 98% for Hb×RBC and 89 and 100% for MCH/RBC respectively). Mean age at diagnosis in Sß(+) group was higher than in SS and Sß° groups (7.45 year vs 4.26 and 4.25 year) (P<0.001). In addition, Sß° and Sß(+) groups had significantly lower MCV, MCH, and Hb×RBC indices compared with control group. CONCLUSION: We suggest that in an anemic patient with history of pain crises, normochrome normocytic anemia, Hb×RBC <45 and MCH/RBC ≥7, SCD should be considered and the patient evaluated accordingly to confirm the diagnosis.

alpha-thalassemia mutations in Khuzestan Province, Southwest Iran.

Although alpha-thalassemia (alpha-thal) is the most common hereditary hemoglobin (Hb) disorder in Iran, no comprehensive data are so far available on the prevalence of the disease in the province of Khuzestan in Southwest Iran. This study investigates the spectrum of alpha-thal mutations in this region. One hundred and twenty-one subjects from Khuzestan Province, Iran, were initially tested for the three most common Iranian alpha-thal mutations (- alpha3.7, -alpha4.2, and --MED) by gap-polymerase chain reaction (gap-PCR). Reverse hybridization test strips and DNA sequencing were used to identify additional alpha-globin mutations. A total of 131 mutated alpha-globin alleles were identified in these patients. Of the 13 mutations that were detected in Khuzestan Province, Iran, the - alpha3.7 single gene deletion was the most frequently identified variant, representing 62.6% of the total; we also observed significant numbers of individuals with compound heterozygous mutations. On the basis of our results, we strongly recommend screening for the most common mutations to improve the molecular diagnosis of anemia in this region.

Existence of cord compression in extramedullary hematopoiesis due to beta thalassemia intermedia.

Extramedullary hematopoiesis (EMH) is a rare disorder, characterized by the appearance of hematopoietic elements outside of the bone marrow, which occurs in patients with chronic myeloproliferative disorders or congenital hemolytic anemias. We report a case with thalassemia intermedia, EMH in spinal cord and a paravertebral mass. We report the case of a 20 year old female who initially presented with back pain and leg weakness was found to have paravertebral mass in the spinal cord.

Co-inheritance of alpha-and beta-thalassemia in Khuzestan Province, Iran.

BACKGROUND AND AIMS: beta-thalassemia is one of the most frequent hemoglobinopathies and single gene disorders in Iran. About 13 beta globin mutations encompass 70-90% of mutations spectrum in Iran, the rest are rare or unknown. People who do not produce enough alpha globin protein chains have alpha-thalassemia. This is commonly found in Africa, the Middle East, India, Southeast Asia, southern China, and occasionally the Mediterranean region. There are normally four alpha globin genes, two on each chromosome 16. Individuals who have one or two abnormal alpha globin genes have alpha-thalassemia trait. The aim of this study was to detect alpha-thalassemia in beta-thalassemia carriers during prenatal screening. MATERIALS AND METHODS: A total of 158 couples were diagnosed to be discordant alpha- and beta-thalassemia carriers. We used the routine screening for thalassemia which includes full blood counts and indices, hemoglobin electrophoresis and measurement of Hb A(2) level. The standard diagnostic marker for beta-thalassemia is elevation of the Hb A(2) level (>3 x 5%). Low mean corpuscular volume (MCV) and mean cell hemoglobin (MCH) with a normal Hb A(2) indicate an alpha-thalassemia carrier. Staining for HbH inclusion bodies is also carried out as part of the screening for alpha thalassemia. The 59 and 39 ends of the breakpoint regions of the -alpha(4 x 2) allele and the normal homologous segments were sequenced in selected individuals. RESULTS: Of the 158 beta-thalassemia partners, seven (4 x 4%) were found to have co-inheritance of alpha(+)-thalassemia, and three (1 x 9%) found to have co-inheritance of alpha(0)-thalassemia. Two pregnancies affected with Hb Bart's hydrops fetalis were terminated in the 158 couples. A sequence haplotype was found in all of the five Iranian -alpha(4 x 2) thalassaemia alleles studied. Based on these findings, a novel polymerase chain reaction (PCR)/denaturing high performance liquid chromatography (DHPLC) assay was developed for rapid genotyping of the -alpha(4 x 2) allele instead of traditional Southern blotting or Gap-PCR. This method involves amplification of the alpha globin target sequence encompassing these four polymorphic sites, followed by a partially denaturing HPLC analysis using the transgenomic WAVE DNA fragment analysis system. The major genotypes (-alpha(4 x 2)/alpha alpha, -alpha(4 x 2)/--(MED), -alpha(3 x 7)/alpha alpha, -alpha(3 x 7)/-alpha(3 x 7), alpha alpha/--(MED) and alpha alpha/alpha alpha) could be distinguished through the characteristic chromatograms generated by the WAVE system. DISCUSSION: The results showed that molecular analysis must be used for accurate diagnosis of double heterozygotes in couples presumed to be discordant for alpha- and beta-thalassemia on hematologic testing. The accuracy of this technique was evaluated blindly, and the results were 100% (40 of 40) concordant with the genotypes previously characterized by Southern blotting or Gap-PCR.

Iron-deficiency anemia among children in southwest Iran.

BACKGROUND: Iron deficiency is a major health problem worldwide and especially in developing countries. Iron-deficiency anemia has adverse effects on the development of children. OBJECTIVE: The purpose of this study was to determine the prevalence of iron-deficiency anemia in children under 5 years of age in southwest Iran. The study also sought to investigate the association between socioeconomic, demographic, cultural, and nutritional factors and iron-deficiency anemia in the selected area. METHODS: A randomized, cross-sectional study was performed of children 6 to 59 months of age living in urban and rural areas of Ahwaz District in Khuzestan Province. At eight randomly selected health centers, the children's height (or length) and weight were measured, and information on length and weight at birth was obtained from growth charts. Blood samples were taken from 337 randomly selected children. RESULTS: The results showed that 43.9% of the children had anemia and 29.1% iron-deficiency anemia. The highest prevalence of iron-deficiency anemia was in the 12- to 24-month age group. In the urban areas, infants 6 to 11 months of age had the highest prevalence of iron-deficiency anemia. CONCLUSIONS: The high prevalence of iron-deficiency anemia among children in southwest Iran indicates a major nutrition and health problem.