dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.

Mutations in the anion exchanger 1 (AE1) gene encoding the erythroid and kidney anion (chloride-bicarbonate) exchanger 1 may result in familial distal renal tubular acidosis (dRTA) in association with membrane defect hemolytic anemia. Seven children presenting with hyperchloremic normal anion gap metabolic acidosis, failure to thrive, and compensated hemolytic anemia were studied. Analysis of red cell AE1/Band 3 surface expression by Eosin 5'-maleimide (E5M) was performed in patients and their family members using flow cytometry.

Susceptibility to invasive bacterial infections in children with sickle cell disease.

Individuals with sickle cell disease (SCD) demonstrate an increased susceptibility to invasive bacterial infections (IBI). The most common organisms causing IBI are Streptococcus pneumoniae, nontyphi Salmonella species and Haemophilus influenzae type b (Hib). IBI are the most common causes of death in children below 5 years of age with SCD.

Orbital infarction in sickle cell disease.

Purpose: To determine the role of hematological and genetic factors in the development of orbital infarction in sickle cell disease.

Design: Retrospective, noncomparative case series.

Methods: Fourteen sickle cell disease patients were diagnosed with orbital infarction during a vaso-occlusive crisis.

Sickle cell-haemoglobin E (HbSE) compound heterozygosity: a clinical and haematological study.

The paucity of clinical reports in the world literature suggests that, as a disease entity, haemoglobin SE compound heterozygosity is of negligible importance. In view of the significant community prevalence of this haemoglobinopathy in the Sultanate of Oman where it is the second most prevalent sickling disorder, a hospital study of 12 SE compound heterozygotes from six unrelated Arab families was undertaken to determine their clinico-haematological features. Our findings were compared with those reviewed in the literature.

Serum transferrin receptor status of healthy adult Arabs.

Several studies have provided reference ranges for the concentration of serum transferrin receptor (sTfR) in various white populations, but there is a dearth of relevant reference sTfR data in non-whites. The aim of this investigation was to establish sTfR reference ranges and mean values for a healthy non-white Arab population that could be used also for Arabs worldwide. sTfR and serum ferritin concentrations were estimated by immunoassays and blood counts were determined by conventional methods.

Cytokine profile of sickle cell disease in Oman.

The aim of our study was to assess the cytokine profile of sickle cell disease (SCD) patients in steady state and in vaso-occlusive crisis (VOC). VOC has a complex nature, involving interactions between sickle red blood cells (RBC), the endothelium, and leucocytes. Endothelial damage due to recurrent adhesion of sickle RBCs may disrupt endothelial function, leading to altered cytokine release.

Acute thrombotic thrombocytopenic purpura following doxycycline treatment of Chlamydia pneumoniae infection in a patient with dermatomyositis.

A 48-year-old white female who was suffering from dermatomyositis and Chlamydia pneumoniae infection, developed acute rapidly fatal thrombotic thrombocytopenic purpura (TTP) following treatment with steroids and doxycycline. As a relationship between TTP and the inflammatory myopathies is now probably well established, it is very likely that our patient's TTP became manifest in association with dermatomyositis. Nevertheless, C.

Autoimmune haemolytic anaemia as the presenting manifestation of agnogenic myeloid metaplasia.

We report an unusual case of a 40-year-old female patient with a severe case of direct Coombs positive haemolytic anaemia, moderate hepatomegaly and marked splenomegaly. Her initial response to steroids was transient and was rapidly followed by a relapse. Therefore, she underwent splenectomy both as a therapeutic measure and to rule out an underlying lymphoproliferative disorder.

Analysis of the immunophenotypes of de novo acute lymphoblastic leukaemia (ALL) in the Sultanate of Oman.

Acute lymphoblastic leukaemia (ALL) immmunophenotypes were analysed by flow cytometry in 65 Omani patients (46 children, 19 adults). Common ("CALLA-positive") ALL was the most frequently encountered (70%) B-cell lineage immunophenotype. Among T-cell lineage ALL patients, mature T-cell ALL was the least frequent (7%).

Colonic pseudo-obstruction in sickle cell disease.

A young Arab woman with sickle cell-beta0-thalassemia disease developed acute colonic pseudo-obstruction that became chronic but showed some response to hydroxyurea. There was no evidence of microvascular or macrovascular occlusion. We also report the case of an Arab man with sickle cell anemia who presented with acute colonic pseudo-obstruction from which he recovered completely within a few days.

Orbital involvement in sickle cell disease: a report of five cases and review literature.

Purpose: To present five cases of orbital infarction in sickle cell disease and review relevant literature.

Method: We reviewed the hospital records of 5 patients with sickle cell disease who developed a periorbital swelling during a vaso-occlusive crisis and were managed at our hospital between April 1992 and June 2000.

Results: The 5 patients (4 with homozygous sickle cell disease and 1 with sickle cell-beta-thalassaemia disease) were aged 6-15 years with a history of multiple admissions for vaso-occlusive crises.

Long-term effects of nitrous oxide anaesthesia on laboratory and clinical parameters in elderly Omani patients: a randomized double-blind study.

Aims: This study examined the long-term effects of nitrous oxide anaesthesia on serum levels of cobalamin and folate, red cell folate levels and haematological parameters, and neurological status in elderly Omani patients.

Methods: Sixty-nine consecutive patients undergoing ophthalmic surgery were randomly and double-blind assigned to nitrous oxide or propofol anaesthesia. They met the following entry criteria: age 55 years or above, no major organ failure, no clinical signs or symptoms of cobalamin or folate deficiency, mean cell volume (MCV) View Article and Find Full Text PDF

Descriptive epidemiology of de novo acute leukaemia in the Sultanate of Oman.

A hospital-based epidemiological study of de novo acute leukaemia was carried out in the Sultanate of Oman, a sparsely populated Arabian Gulf country which has undergone rapid and dramatic socio-economic changes recently. A total of 65/99 Omanis (66%) were diagnosed as acute lymphoblastic leukaemia (ALL) and 34/99 (34%) as acute myeloid leukaemia (AML). Trends and peak values in age-specific incidence rates for ALL are generally in line with those of Western countries.

HTLV-I seroprevalence in the Sultanate of Oman.

2329 subjects (blood donors and patients) from various areas of the Sultanate of Oman were investigated for the presence of HTLV-I antibody by as enzyme immunoassay (EIA) method. 10 subjects (0.4%), including 9/1586 blood donors (0.

Pseudo-Gaucher's cells in association with common acute lymphoblastic leukemia.

Gaucher-like cells were found in the bone marrow and liver of an Omani teenager who had common acute lymphoblastic leukemia (cALL) confirmed on peripheral blood analysis by the presence of CD10 antigen. Leukocytic or fibroblastic beta-glucocerebrosidase enzyme activity was not measured, but other biochemical data and features of bone marrow on electron microscopy were not indicative of genuine type 1 Gaucher's disease. To our knowledge, this is the first report of pseudo-Gaucher's cells in association with cALL.

Localized tuberculous lymphadenopathy associated with the myelodysplastic syndrome.

A 46-year-old man with fever and pancytopenia was found to have a myelodysplastic syndrome. During the course of the illness, he had localized cervical tuberculous lymphadenitis. We believe this association of the myelodysplastic syndrome with localized tuberculosis has not been previously described.

Prevalence of mitral valve prolapse in Saudi sickle cell disease patients in Dammam - A prospective-controlled echocardiographic study.

Mitral valve prolapse (MVP) is the most common valvular heart disease and there are numerous reports of a strong association with many conditions including sickle cell disease (SCD). Since SCD is very common in the Eastern Province of Saudi Arabia, we undertook a prospective controlled study to determine and compare the prevalence of MVP in the SCD patients with other groups of subjects. Three hundred and sixteen subjects (156 males and 160 females) were studied.

X linked recessive thrombocytopenia.

A Saudi Arab boy presented in early childhood with thrombocytopenia, morphologically large and normal sized platelets, increased mean platelet volume, and a hypermegakaryocytic bone marrow. There was no clinical and laboratory evidence of any significant immunological abnormalities. Similar findings in two other brothers suggested strongly that they were all suffering from an X linked recessive thrombocytopenic disorder.