ß-Thalassemia Mutations among Transfusion-Dependent Thalassemia Major Patients in Northern Iraq.

Molecular defects responsible for ß-thalassemias (thal) were investigated among 254 chromosomes from 127 transfusion-dependent unrelated thalassemic patients from two provinces in Northern Iraq. Among fourteen identified mutations, the seven most common found in 88.2% of the thal chromosomes were: IVS-II-1 (G → A), IVS-I-1 (G → A), codon 8 (-AA), codon 39 (G → T), codon 8/9 (+G), codon 44 (-C), and codon 5 (-CT). There were some notable differences in frequencies of various mutations in comparison to other Eastern Mediterranean populations, as well as between the two provinces studied. The latter illustrates the relative heterogeneity of the mutations distribution in Iraq, and the need to screen other areas of the country, to ensure establishing an effective prenatal program.

Prevention of overwhelming postsplenectomy infection in thalassemia patients by partial rather than total splenectomy.

OBJECTIVE: We aimed to evaluate the protective role of partial versus total splenectomy against sepsis in patients with thalassaemia when other preventive measures are not available. Overwhelming postsplenectomy infection is a serious complication of splenectomy in these patients, and most present with pneumococcal septicemia. Pneumococcal vaccine given before surgery is a well-established preventive measure. METHODS: In this study, we compared 2 populations of patients from Iraq and Saudi Arabia, both of whom underwent splenectomy for thalassaemia. All patients from Saudi Arabia were given a preoperative pneumococcal vaccine and underwent total splenectomy after about 4 weeks. Unfortunately, this vaccine was not available for the Iraqi patients. Partial splenectomy was offered to many of these patients as a protective measure against this fatal complication. RESULTS: A significant difference was found between the total splenectomy fatalities in the 2 groups. There were 5 deaths in the 30 enrolled Iraqi patients over 4 years. One death over a 12-year period was reported in the 22 patients from Saudi Arabia. Partial splenectomy was associated with a dramatic reduction of mortality in the Iraqi patients. None of the 12 patients died during a follow-up period of 4 years. CONCLUSIONS: Pneumovax is a powerful prophylactic tool against overwhelming postsplenectomy infection in patients with thalassaemia and should be used whenever available. In poor or problematic countries with limited health resources, partial rather than total splenectomy could offer an alternative measure to avoid this fatal complication.

Hemorrhagic episodes in hemophiliacs simulating abdominal surgical emergencies.

Hemophiliacs are subjected to develop episodes of spontaneous bleeding at different sites of the body, primarily the knees. On occasions, such episodes affect the abdomen. The picture engendered in such cases may mimic that of an abdominal emergency requiring surgical intervention. Such ill advised and unwarranted intervention may end with the patient's death. With the proper employment of radiology, the correct diagnosis may be reached and consequently, conservative treatment, in which factor VIII plays the major role, instituted. Here, we describe the clinical course of 2 patients with hemophilia A who suffered bleeding in the abdomen and were treated conservatively with a successful outcome.