Magnitude of Bone Disease in Transfusion-Dependent and Non-Transfusion-Dependent ß-Thalassemia Patients.

Introduction ß-Thalassemia is a common inherited disease in the northern part of Iraq. A considerable number of transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) ß-thalassemia patients suffer bone problems. The objective of this study was to evaluate the degree of bone disease in the TDT and NTDT patients using a dual-energy X-ray absorptiometry (DEXA) scan. Patients and methods In this study, 53 TDT and 20 NTDT patients aged ≥10 years were enrolled. Their bone status was assessed using the DEXA scan at the lumbar spine (L1-L4) and femoral neck. The effect of physical, biochemical, and hormonal characteristics on the bone mineral density (BMD) parameters was evaluated. The value of the BMD Z-score was the measure to decide on the magnitude of bone disease. Results and discussion The mean age of the enrolled patients was 24.1 years. The BMD Z-score values were significantly lower among the TDT patients at the lumbar spine and femoral neck (BMD Z-score: -2.05 and -1.51 versus -2.29 and -0.71; p=0.044 and 0.009, respectively). The proportion of osteoporosis at the lumbar spine was significantly higher in the TDT group than in the NTDT group (69.8% versus 40%; p <0.001). The BMD Z-score correlated significantly with patient BMI and parathyroid hormone (PTH) level in both the TDT and NTDT groups. No correlation was found with age, hemoglobin (Hb), and serum levels of calcium, vitamin D, ferritin, phosphorus, and alkaline phosphatase (ALP). Conclusions Impaired bone density was encountered at high proportions in our thalassemia patients. TDT patients suffered more severe bone disease than NTDT patients.

Genotype-phenotype correlation of HbH disease in northern Iraq.

BACKGROUND: HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genotypes is fundamental for proper screening and prevention of thalassaemia in any region. The aim of this study was to explore the genetic arrangements of HbH disease and to correlate the genotypes with the clinical phenotypes. METHODS: A total of 44 HbH disease patients were enrolled in this study. They were clinically and haematologically assessed. The patients were tested for 21 common α-globin gene mutations using multiplex PCR and reverse hybridization. According to the genotype, the patients were categorized into two separate sub-groups, deletion and non-deletion types HbH disease. RESULTS: Within the studied HbH disease patients, eight different α-globin gene mutations were detected in nine different genetic arrangements. The --MED and -α3.7 deletions were the two most frequently encountered mutations (37.5 and 35.2% respectively). Patients with deletion genotypes constituted 70.4%. The most common detected genotype was --MED/-α3.7 (59.1%), followed by αpoly-A1α/αpoly-A1α (13.6%). For the first time, coinheritance of two relatively mild mutations (-α3.7/ααAdana) was unpredictably detected in a 1.5 year-old child with Hb of 7.1 g/dL. CONCLUSION: The HbH disease patients' clinical characteristics were variable with no ample difference between the deletion and non-deletion types. These results can be of benefit for the screening and management of thalassaemia in this region.

Promising Response to Thalidomide in Symptomatic ß-Thalassemia.

Over the past decade, few reports suggested that the drug thalidomide (HbF inducer) may be of value in a subset of transfusion-dependent and non-transfusion dependent thalassemia patients. A cohort of 37 patients with symptomatic ß-thalassemia syndrome [14 transfusions dependent thalassemia (TDT), and 23 Non-transfusion dependent Thalassemia (NTDT)], who were unable to pursue conventional therapy with transfusion and chelation, were recruited over 3 years in a center in Iraqi Kurdistan. After taking informed consent, patients were put on low dose Thalidomide (2-10 mg/kg), with regular follow up after that for a minimum of 8 months for a response. Patients with TDT were considered responders if their yearly transfusion requirement dropped by 25% or more, while NTDT responders were those who had a hemoglobin raise of 1 g m/dL or more. The median age of enrolled patients was 10 years (range 3-43) and included 21 males and 16 females. After a mean of 1.7 months (SD 0.76), responses were documented in 28 patients (75.7%). Among NTDT patients, a significant increase in hemoglobin from a mean of 7.83 (SD 1.07) to 9.96 g/dL (SD 1.11 g m/dL) was documented. While among TDT patients, there was a significant drop in yearly transfusions from 27 (SD 17.7) to 7.79 (SD 7.5) blood unit per year. The response in both categories was sustained after a median follow up of 15 months (8-36 m). Only minimal side effects were documented throughout in the form of constipation and only one patient developed extramedullary hemopoietic abdominal masses. A significant response to thalidomide was documented in the majority of TDT and NTDT patients, a response which was obtained after a mean of 1.7 months, and the response was sustained with limited side effects. The results support a possible role for this medication in a subset of thalassemia patients.

The Effects of Smoking on IgE, Oxidative Stress and Haemoglobin Concentration.

BACKGROUND: Smoking is a well-known related factor for many health problems in a human being through different ways of exposure. OBJECTIVES: Thie aim of the study was to examine the effects of different types of cigarette smoking on hemoglobin level, high sensitive C-Reactive Protein (hsCRP), Malondialdehyde (MDA), and IgE levels in healthy adult subjects. METHODS: One hundred seventy-one healthy adult females and males were included in this study. They divided into four groups: cigarette, shisha, passive smokers, and non-smokers groups. Serum samples from all groups analyzed for hemoglobin, hsCRP, IgE, and malondialdehyde level. RESULTS: The mean MDA, IgE, and hemoglobin levels significantly increased in both smokers (cigarette and Shisha groups) and passive smokers than in non-smokers group (p<0.05). The hsCRP levels were significantly increased (p<0.05) in cigarette and Shisha smokers compared to non-smokers. At the same time, there was a non-significant relationship between passive smoker in comparison to non-smokers (p>0.05). CONCLUSION: This study concluded that smoking, including cigarette and shisha, even passive smoking harmed health through increasing Malondialdehyde, serum IgE and hs-CRP levels in the body.

Challenges associated with limited-resources cancer care facility: Bilateral breast myeloid sarcoma as an example.

Myeloid sarcoma (MS) is a rare myeloid malignancy. It can arise before, concurrent with, or following different malignant hematological diseases, most commonly acute myeloid leukemia (AML), myelodysplastic syndrome, or myeloproliferative neoplasms. Here we describe a 30-year-old female with AML-M1 who presented to the hematology department with bilateral breast pain and tenderness. Available diagnostic measures including ultrasound of breast and magnetic resonance imaging were used to determine the nature of these breast lumps. MS was definitively diagnosed via biopsy and the patient was treated with systemic chemotherapy. Despite her AML treatment she unfortunately died secondary to disease progression. The authors consider this case of particular educational value due to the bilateral and aggressive nature of this patient's disease in the setting of a cancer-care facility with limited resources. KEY CLINICAL MESSAGE: In retrospect, if breast MS had been considered earlier in this patient's presentation, a referral to an outside center with matched stem cell transplantation capability may have been warranted after complete remission following first bone marrow relapse, rather than continuing chemotherapy alone.

A Syrian Refugee in Iraq Diagnosed as a Case of IL12RB1 Deficiency in Japan Using Dried Blood Spots.

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare condition of primary immunodeficiency disorder. Interleukin-12 receptor ß1 (IL12RB1) deficiency, is the most common genetic etiology of MSMD, which is characterized by the selective predisposition to clinical disease caused by weakly-virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccines, and environmental non-tuberculous mycobacteria (NTM). To the best of our knowledge, this is the first case of IL12RB1 deficiency to be reported from Iraq. Our case is an 8-year-old Syrian girl, for first-cousin parents, with a refugee-status in the North of Iraq. She had a history of disseminated BCG infection 2 months after receiving BCG vaccine, in addition to repeated episodes of mild or severe illnesses, such as maculopapular skin rash, lymphadenopathy, gastroenteritis, meningitis, and clinically diagnosed tuberculosis (TB) based on local TB-prevalence setting. Because of limited medical facilities in the war-torn countries; in Syria and Iraq, no diagnosis could be reached. We used Flinders Technology Associates (FTA) cards to transfer her bone marrow aspirate to Japan. A homozygous IL12RB1 mutation was detected by whole exome sequencing in Japan, using genomic-DNA extracted from dried bone marrow sample spots on FTA filter paper. In conclusion, diagnosis of MSMD due to IL12RB1 deficiency was possible by transferring the FTA sample of the patient for genetic evaluation in Japan. Our report recalls the need of pediatricians in countries with TB-prevalence and high parental consanguinity, to consider IL12RB1 deficiency in the differential diagnosis of a child with clinical evidence of TB, especially with the history of disseminated BCG disease.