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. Clinical and haematological evaluation was carried out by conventional methods including chromatographic haemoglobin analysis. At least 50% of those studied were asymptomatic throughout the study period but sickling-related complications occurred in the rest and included the acute chest syndrome (1/12), severe vaso-occlusive skeletal pain (2/12), frontal bossing (1/12) possibly indicative of significant chronic haemolysis and recurrent infections of the urinary tract (1/12). Steady-state haemoglobin levels fell within the reference range while MCV and MCH values were, as expected, reduced in most cases; nevertheless, concomitant inheritance of alpha-thalassaemia trait was also likely. Red cell morphology was striking by the absence or rarity of pseudo-sickled cells in the blood films of many patients during the steady state and in crises. Bearing in mind the prevalence of 0.05% of SE compound heterozygosity in Oman, the findings in this single study of the largest number of SE patients and their relatives confirm the predominantly asymptomatic nature of this sickling disorder in individuals in the community at large. HbF levels do not appear to explain the heterogeneous nature of this haemoglobinopathy. Correlation of the variable clinical and haematological features of SE cases with their alpha-globin gene status and beta-cluster haplotypes (linked to the beta(s)- and beta(e)-genes) merits a separate investigation, which is being currently organized.

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. pneumoniae infection and doxycycline therapy cannot be excluded entirely as cofactors responsible for triggering her thrombotic microangiopathy.

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. The periorbital swelling spread to the orbit in 4 cases and resulted in proptosis (2 cases), restriction of ocular motility and visual impairment. In all 4 cases, computed tomography and/or magnetic resonance imaging of the orbits showed a mass adjacent to the orbital wall. In 2 cases the mass was identified as a haematoma. Orbital wall infarction was demonstrated in 3 cases by bone/bone marrow scintigraphy. Epidural haematomas were detected by computed tomography in one case. All patients received intravenous fluids, analgesics, broad spectrum antibiotics and steroids, as well as simple or exchange transfusion, and responded well to medical management. CONCLUSIONS: Infarction of orbital bones during vaso-occlusive crises in sickle cell disease presents acutely with a rapidly progressive periorbital swelling. Haematomas frequently complicate the condition and, along with the inflammatory swelling, may lead to orbital compression syndrome. The condition is therefore sight-threatening, and necessitates prompt diagnosis and appropriate management for resolution without adverse sequelae. Imaging techniques are invaluable in the evaluation of patients. The majority of cases resolve with conservative treatment that includes steps to combat the vaso-occlusive crisis and use of systemic steroids under antibiotic cover.

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)

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. The proportion of T-ALL cases is however higher than that in Caucasian populations but lower than in many non-white populations. AML frequency particularly in childhood is similar to that observed in many African countries.

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.

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 (0.6%) and 1/165 patients with sexually transmitted diseases (0.6%), were found to be EIA seropositive with a regional variation in seroprevalence of 0-14%. 6/9 EIA seropositive samples from blood donors yielded 'indeterminate' results on Western immunoblot analysis (WBA). A much larger survey with additional confirmatory assays such as a radioimmunoprecipitation assay (RIPA), should provide a more conclusive picture of the prevalence of this retroviral infection in the Sultanate.

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. They were divided into four groups based on their hematologic diagnoses - I SCD, II normal controls, III sickle cell traits, IV other anemias. The prevalence of MVP is 17.4% in Group I, 13.3% in Group II, 21.4% in Group III and 19.4% in Group IV. There was no statistically significant difference in the prevalence of MVP among the four study groups. In contrast to a previous study, these results show that the prevalence of MVP by echocardiographic criteria (M-mode and 2-dimensional) in SCD patients is the same as in the general population. We believe that mere case-reporting and lack of or inappropriate control in most of the clinical series are responsible for the wide range of conditions claimed to be associated with MVP.

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. Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott-Aldrich syndrome (WAS). Because of various features which include the presence of large and normal sized platelets (rather than small platelets) and freedom from significant immune deficiencies, it is likely that the X linked recessive thrombocytopenia in this family is an isolated entity quite distinct from the classical WAS phenotype. However, a modified expression of the WAS gene producing a mild phenotypic variant cannot be excluded entirely.

Splenectomy for hematological disorders in the Eastern Province of Saudi Arabia.

Splenomegaly is a common clinical disorder in the Kingdom of Saudi Arabia. Its aetiology is variable and includes portal hypertension due to schistosomal periportal hepatic fibrosis, haemoglobinopathies and lymphoproliferative disorders. At King Fahd Hospital of the University, Al-Khobar in the Eastern Province of the Kingdom, splenectomy is performed frequently for various reasons on patients drawn from all the Provinces. This is a report of 104 patients (age range eight months to 65 years) who underwent splenectomy between 1982 and 1987. We reviewed the indications, operative findings, outcome, and complications of the procedure. Patients with hypersplenism formed the largest group (50%) subjected to splenectomy followed by those suffering from the haemoglobinopathies. Chest infection as the most common complication and it mainly affected patients with portal hypertension. Post-operative septicaemia occurred in four cases within six months from the date of splenectomy.

Erythrocyte pyruvate kinase deficiency in newborns of eastern Saudi Arabia.

Cord blood specimens from 513 normal Saudi neonates from the Eastern Province were screened for the deficiency of erythrocyte pyruvate kinase enzyme using the fluorescent spot test. The enzyme activity of the deficient specimens and 108 randomly selected samples was assayed spectrophotometrically. The results indicate that the incidence of this enzyme deficiency is 3.12% which is higher than that reported previously. The findings are compared with those reported by others and the possible factor responsible for the high incidence of this deficiency is discussed.

Serum cobalamin concentration in tuberculosis. A study in the Guinea savanna of Nigeria.

The concentration of serum cobalamin (SB12) was estimated in tuberculous Nigerian patients so as to define the role of this vitamin in the pathogenesis of the anaemia of tuberculosis. Complete data in 147 infected subjects before and during treatment and in 50 asymptomatic blood donors revealed no significant difference between mean serum cobalamin (mean SB12) concentrations of patients of both sexes and the asymptomatic controls. No differences were demonstrated between mean SB12 of groups of patients subdivided on the basis of degree of anaemia. Moreover, there was no significant correlation between Hb and SB12. Mean SB12 was essentially similar in patients with localised (300.7 pmol/l) and disseminated (311.1 pmol/l) disease. In the 121 patients with pulmonary tuberculosis, mean SB12 of those with one affected lung (291.9 pmol/l) was not significantly different from those with infection of both lungs (303.5 pmol/l). Antituberculosis therapy did not cause a fall in mean SB12. This study does not provide evidence of any significant abnormality in serum cobalamin concentration in Nigerians suffering from localised or disseminated tuberculosis. There is, therefore, no rational basis for the widespread but costineffective practice of supportive oral or parenteral vitamin B12 therapy in the management of this disease.

Folate status in tuberculosis: a study in the Guinea Savanna of Nigeria.

Information about folate status in tuberculosis in developing countries is scanty. It was therefore decided to study serum and red cell folate (SF and RCF) levels in this infection. SF and RCF measurements were carried out by a microbiological (L. casei) method on 152 patients before treatment and on 94 patients (58 defaulted) at varying intervals during treatment. Mean SF (3.9 micrograms/l) of tuberculous subjects was significantly lower than that of the normal mean (6.8 micrograms/l; P less than 0.001) but their mean RCF (212.9 micrograms/l) was not significantly different from the normal mean RCF (220 micrograms/l). These findings indicate at least a state of incipient folate depletion. Though the mean RCF was normal, 32 patients had low RCF values of less than 120 micrograms/l while in 16 patients RCF levels were less than 100 micrograms/l. Only 10 ill subjects--all with disseminated disease--showed both very low SF (less than 2.0 micrograms/l) and low RCF (less than 120 micrograms/l). Thus, established folate deficiency was also clearly demonstrated in a proportion of the affected individuals. In the patient population as a whole, however, no relationship was detected between folate levels (SF, RCF) and (a) extent of disease (b) haemoglobin or haematocrit. Antituberculous treatment was accompanied by a rise in mean SF and RCF which, however, were still less than the normal mean values.