Spectrum of ß-thalassemia mutations in the eastern province of Saudi Arabia.

ß-Thalassemias comprise a group of heterogeneous hemoglobin (Hb) disorders characterized by the absence or reduced synthesis of the ß-globin chain with a variable clinical presentation. The Al-Qatif and Al-Ahsa oases in the Eastern Province of Saudi Arabia are regions known for the high prevalence of these disorders. This study was conducted to provide a more precise picture of the ß-thalassemia (ß-thal) mutations prevalent in these regions and to estimate their frequencies. One hundred and 96 subjects with transfusion-dependent ß-thalassemia (ß-thal) disease were included in this study. A total of 14 ß-thal mutations were identified with five mutations accounting for more than 80% of the total ß-thal mutations identified. Of the 196 patients, 164 were homozygous for a ß-thal mutation, while 32 were compound heterozygotes. We report here the novel identification of two mutations, namely, the Tunisian splice site IVS-I-130 (G→C) and the Mediterranean cryptic splice site IVS-I-110 (G→A), which have not been previously reported in the population of the Eastern Province. However, 15 patients (46.9%) with compound heterozygosities carried one of the ß-thal mutations and the sickle cell mutation [Hb S or ß6(A3)Glu→Val]. These patients were less frequently transfused than the patients who were homozygous for the ß-thal mutations and presented with fewer complications. A more comprehensive overview of the genetic heterogeneity of the ß-thal mutations in the Eastern Province of Saudi Arabia is presented in this article. This study will contribute to the establishment of an effective prevention program, including premarital screening.

Management of painful vaso-occlusive crisis of sickle-cell anemia: consensus opinion.

Sickle-cell disease (SCD) is a wide-spread inherited hemolytic anemia that is due to a point mutation, leading to the substitution of valine for glutamic acid, causing a spectrum of clinical manifestations in addition to hemolysis and anemia. Acute painful crisis is a common sequela that can cause significant morbidity and negatively impact the patient's quality of life. Remarkable improvements in the understanding of the pathogenesis of this clinical syndrome and the role of cell adhesion, inflammation, and coagulation in acute painful crisis have led to changes in the management of pain. Due to the endemic nature of SCD in various parts of the Middle East, a group of physicians and scientists from the United States and Middle East recently met to draw up a set of suggested guidelines for the management of acute painful crisis that are reflective of local and international experience. This review brings together a detailed etiology, the pathophysiology, and clinical presentation of SCD, including the differential diagnoses of pain associated with the disease, with evidence-based recommendations for pain management and the potential impact of low-molecular-weight heparin (LMWH), from the perspective of physicians and scientists with long-term experience in the management of a large number of patients with SCD.