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.

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.

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.