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.

Splenic syndrome in patients at high altitude with unrecognized sickle cell trait: splenectomy is often unnecessary.

BACKGROUND: The health risks associated with sickle cell trait are minimal in this sizable sector of the world's population, and many of these patients have no information about their sickle cell status. Splenic syndrome at high altitude is well known to be associated with sickle cell trait, and unless this complication is kept in mind these patients may be subjected to unnecessary surgery when they present with altitude-induced acute abdomen. METHODS: Four patients were admitted to the surgical ward with a similar complaint of acute severe left upper abdominal pain after arrival to the mountainous resort city of Abha, Saudi Arabia. All were subjected to splenectomy because of lack of suspicion regarding sickle cell status. RESULTS: Histologic examination of the spleen showed all patients had sickle cells in the red pulp. On further assessment all were found to have sickle cell trait with splenic infarction. In a similar study of 6 patients with known sickle cell disease who had comparable problems when they travelled to the Colorado mountains, all made an uncomplicated recovery with conservative management. CONCLUSIONS: In ethnically vulnerable patients with splenic syndrome, sickle cell trait should be ruled out before considering splenectomy. These patients could respond well to supportive management, and splenectomy would be avoided.

Fatal familial infantile myelofibrosis.

Malignant megakaryopoiesis can cause chronic or acute myelofibrosis through production of fibrogenic cytokines. Chronic myelofibrosis is a clonal disorder with marrow fibrosis, myeloid metaplasia, gross splenomegaly, and teardrop cells. Acute myelofibrosis differs by its aggressiveness, by the fact that it is more common in children, and by lack of organomegaly or anisopoikilocytosis. Surprisingly, in early childhood and infancy, splenomegaly and teardrop red cells become an important feature. Infantile myelofibrosis is a rare disease, except in Down syndrome. Familial occurrence of infantile myelofibrosis is exceedingly rare. The author describes an unfortunate family whose four consecutive children died of a very fulminant form of acute myelofibrosis during their first year of life. The fulminant nature of the disease, the degree of splenomegaly, and the prominence of anisopoikilocytosis were even more marked than in currently reported cases of infantile myelofibrosis. The mode of inheritance remained illusive. With two female children, sex-linked inheritance was not possible. It could not have been inherited in an autosomal dominant fashion with normal parents and with two normal children from the father's second marriage. A new autosomal dominant mutation in the germ cell of either parent is another possibility. Autosomal recessive inheritance remained a logical explanation, although such a high degree of disease presentation in a non-consanguineous marriage seems to put that possibility in question.

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.

Dyserythropoiesis in 105 patients with visceral leishmaniasis.

Hematologists in the developing world are increasingly involved in diagnosing parasitic diseases that involve the bone marrow. With a worldwide annual incidence of half a million cases and 12 million infected people, visceral leishmaniasis is one such serious disease. It mainly affects malnourishedand economically underprivileged children. Recently, this disease has been seen in acquired immunodeficiency syndrome patients and in travelers to endemic areas. Over an 18-year period, 442 marrow examination requests were received by our department, and 105 cases of visceral leishmaniasis were diagnosed from findings of Leishman-Donovan bodies. Prominent nuclear dyserythropoiesis was shown in 17 patients, 14 of whom had the frank type that is uniquely seen in congenital dyserythropoietic anemia type II. Most of these cases showed an extremely low degree of marrow parasitemia. This degree of nuclear dyserythropoiesis was not found in the majority of the marrows in which parasites were more easily detected. There is a direct and negative correlationbetween frank nuclear dyserythropoiesis and marrow parasitemia. Extended microscopical examination is recommended for the detection of Leishman-Donovan bodies in cases of suspected visceral leishmaniasis when frank dyserythropoiesis is a prominent feature. It is possible that both frank nuclear dyserythropoiesis and marrow parasitemia are etiologically under the influence of a common chemokine or cytokine.