Serum zinc level in thalassemia major

To compare serum zinc level between Thalassemia Major [TM] patients and normal population at Shafa Hospital in South West of Iran. A total of 25 male and 36 female of TM patients were enrolled in this study. Out of 61 patients thirty were treated by deferroxamine [DFO] and 31 were on the combination of DFO and deferiprone [DEF] protocol therapy. Sixty normal subjects of the matching age and gender were recruited as controls. From each patient and control group 2 ml of blood was taken in fasting condition. Cell blood count and serum zinc were carried out for both thalassemia patients and normal subjects. The mean age of patients and control group was 15 +/- 5years. Mean serum zinc level was 68.97 +/- 21.12microg/dl, 78.10 +/- 28.50 microg/dl, and 80.16 +/- 26.54 microg/dl in the TM with DFO, TM with DFO + DEF combination protocol and control group respectively. There was no significant correlation between patients and control group. However 50 percent of TM with DFO, 38.7 percent of TM with DFO + DEF and 32.8 percent of control group had hypozincemia. Nearly 40 to 50 percent of TM patients and one third of normal subjects are suffering from hypozincemia. This study shows that low level of serum zinc is a health problem in both thalassemia patients and normal population in South West of Iran

How to reach rapid diagnosis in sickle cell disease?

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 SCO in Iran and comparison of its hematologic indices with normal children. The study included 44 pediatric patients [26 boys and 18 girls] with sickle cell anemia [SS], 27 sickle / beta °-thalassemia [S beta °], and 21 sickle /beta [+]-thalassemia [S beta[+]]. Fifty seven healthy individuals matched with the patients were randomly selected as controls. 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 HbxRBC 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. HbxRBC 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 HbxRBC arid 89 and 100% for MCH/RBC respectively]. Mean age at diagnosis in S beta [+] group was higher than in SS and Sp° groups [7.45 year vs 4.26 and 4.25 year] [P<0.001]. In addition, S beta ° and S beta[+] groups had significantly lower MCV, MCH, and HbxRBC indices compared with control group. We suggest that in an anemic patient with history of pain crises, normochrome normocytic anemia, HbxRBC <45 and MCH/RBC >/= 7, SCD should be considered and the patient evaluated accordingly to confirm the diagnosis

[Elucidation of alpha-thalassemia mutations in Khuzestan, Iran]

Thalassemia is one of the most common hemoglobin disorders, in which alpha-thalassemia appears in affected individuals with hypochromic microcytic anemia. Because of the absence of the mutation detection capabilities in the most health care centers in Iran, the most patients with alpha-thalassemia misdiagnosed as beta silent carriers. Until now, no inclusive research has been done to expose the patterns of it in Khuzestan. Therefore, in the present study we decided to clarify the prevalence of the mutations in alpha -Thalassemia in Khuzestan. One hundred and fourteen patients from Khuzestan were selected among the patients, referred to Kariminejad and Najmabadi Pathology and Genetics Center, between 1998-2006, showing the signs of hypochromic microcytic anemia and normal HbA2 levels. First of all, they were all tested for 3 common alpha -thalassemia mutations,-3.7, -4.2, --MED, by gap-PCR amplification method. Alpha-Globin Strip Assay of the nine mutation panel and DNA sequencing was used to determine other major contributes in Khuzestan. We could detect alpha -thalassemia mutations for 84.2% of tested individuals. 79.2% had cis-type alpha -thalassemia, 13.5% trans-type and 7.3% was a carrier for two cis-type mutations. In total, 72.9% were silent carrier, 19.8% alpha -thalassemia trait, and 7.3% had alpha -thalassemia major. As an early report 27.4% of the tested alleles were found to be mutated. The - alpha[3.7] single gene deletion was the most frequent alpha -globin mutation in our population representing 55.2% of alpha -thalassemia mutations in Khuzestan. Twelve other mutations [--MED, alpha[PA2[GAA]], - alpha[4.2], alpha[cd19], alpha[-5nt], alpha[cd14], alpha[PA1[AAG]], alpha[CS], anti 3.7 triplication, alpha[St], alpha[cd21], alpha[cd59]. We strongly recommend screening for the identified ten common mutations to improve the molecular diagnosis of anemia

Cord compression due to extramedullary hematopoiesis in two patients of beta -thalassemia intermedia

Thalassemia is the most important hemoglobinopathy in Khuzestan province. Thalassemia intermedia [TI] is a genetically heterogenous disease and can result from many different genetic lesions. We report two cases of TI-EMH caused by two separate mechanism and their successful management. Magnetic Resonance Imaging [MRI] is the best diagnostic method in these cases. Management can be done via: Transfusion therapy, Radiotherapy, Hydroxyurea [HU], and Surgery. A 17 years old girl with beta-TI previously asymptomatic presented with back pain and leg weakness which started one month ago. The other patient was 25 years old man referred to hospital with back pain, paresthesia, urine frequency and impairment of gait. In the first case the cause of cord compression was the osseous expansion while in the second patient it was related to soft tissue EMH. First patient was successfully treated with low dose radiotherapy and HU. Radiotherapy was initiated with 200cGY fractions to a total dose of 1600cGY and HU 10mg/kg/day. At the end of radiotherapy, the patient was ambulatory with mild residual weakness. She was regularly followed for two years; at present she is active and asymptomatic. The second patient was successfully treated with low-dose radiotherapy and HU. Radiotherapy was started in 200cGY fractions to a total dose of 1600cGY and HU was given at 10mg/kg/day. At the end of radiotherapy the patient was ambulatory with mild residual weakness. He was regularly followed for six months. At his last visit, he was able to walk and climb stair without any assistance. His neurological examination was much better than before. The most common site of spinal epidural extramedullary hematopoiesis is the posterior aspect in the thoracic spine. EMH can be prevented by regular transfusion therapy which corrects anemia and thereby abolishes the stimulus for EMH. Surgical decompression is the method of choice for the management of EMH because histological diagnosis can be established and immediate decompression of the mass can be achieved. This is especially important to decompress the spinal cord quickly in patients with epidural mass caused by EMH. The disadvantages of surgical intervention include risk of excessive bleeding due to high vascularity of the mass and higher incidence of recurrence. In areas where thalassemia is prevalent, EMH should be considered in the differential diagnosis of patients who have chronic anemia with an intrathoracic mediastinal mass