Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family.

Familial thrombocytosis (FT) has previously been described as an autosomal-dominant disorder with manifestations similar to those of sporadic essential thrombocythaemia. We studied an Arab family consisting of four brothers, aged 4-8 years, who had either sustained markedly elevated (> 1000 x 109/l) or moderately elevated (> 500 x 109/l) platelet counts, two healthy sisters and their parents who had normal platelet counts. The four brothers with FT had normal plasma thrombopoietin levels and are currently not presenting with any thrombotic or haemorrhagic complications. Mutation analysis at the thrombopoietin gene (THPO) of the affected family members failed to detect the intron 3 G-->C splice mutation that had been described as causing FT. In addition, segregation analysis using a polymorphic CA marker revealed completely discordant THPO alleles among the affected brothers. We postulate the existence of a new locus for FT whereby the disease is transmitted as a recessive, possibly X-linked trait.

Evaluation of commonly used tribal and traditional remedies in Saudi Arabia.

There are several compounds used in traditional prescriptions and as cosmetics, among several tribes in the Kingdom of Saudi Arabia. Nothing pertinent in the literature exists regarding the components and health hazards of these compounds. There are no health education programs to warn the community especially high-risk populations (such as sickle cell anemia and diabetes mellitus patients) of the hazards involved in the use of the traditional preparations. Tradition and folk medicine continue to be used in many developing countries, including the Kingdom of Saudi Arabia. For physicians who are not accustomed to dealing with this entity, particularly when the patients are children, the presentation of an infant with multiple scars can be an upsetting event. It is unlikely that such native medical practices will disappear in a short time. The objective of this review is to highlight the importance of this entity for physicians and practitioners to understand the treatment and the perception of the patient or their relatives. The review also provides our experience in evaluating the plant remedies which were used by our patients.

Thalassemia syndromes in Saudi Arabia. Meta-analysis of local studies.

The geographical distribution of Alpha and Beta-Thalassemias differ markedly. Alpha-Thalassemia being particularly prevalent in Southeast Asia and Beta-Thalassemia in the Mediterranean basin. Thalassemia syndromes are common in Saudi Arabia: the Beta-Thalassemia genes occur with variable frequency in different regions of Saudi Arabia and both B+ and Bo thalassemia have been reported. Alpha-Thalassemia is also highly prevalent here and the interaction with the sickle cell gene is commonly observed. Over the last few years, a great deal of information regarding the clinical, molecular and management of these disorders has accumulated in the literature. In this paper we summarize some of the recent studies on the subject along with our experience and our attempt to highlight a number of questions still awaiting answers.

Observations on the clinical features of sickle cell disease in early childhood.

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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.

Clinical features of sickle cell disease in eastern Saudi Arab children.

The clinical features of sickle cell disease (SCD) in Saudi Arab children of eastern origin are presented. One hundred and seventy-three children were diagnosed at birth and followed prospectively from 3 months to up to 4 years of age. There were 87 boys and 86 girls. Genotype distribution included 146 sickle cell anemia, 24 sickle beta +-thalassemia, two sickle beta 0-thalassemia, and one sickle hemoglobin C disease. Of our patients, 7% presented in the first 12 months of age and 27% remained asymptomatic at 4 years. Painful crises of bones and joints were the most common initial symptoms, followed by dactylitis, abdominal crises and acute splenic sequestration (ASS), occurring in 60%, 31.6%, 6.7%, and 1.7% of the patients, respectively. None of the patients presented with severe bacterial infections. During this study, 175 sickle cell crises were documented, but only 16 (9.1%) required hospital admissions. There were no deaths in this series. High hemoglobin F levels correlated with delayed clinical presentation and reduced number of crises. We conclude that SCD in children of eastern origin is clinically milder than earlier descriptions from the Eastern Province of Saudi Arabia.

Variability of sickle cell disease in the Eastern Province of Saudi Arabia.

The clinical and hematologic features of sickle cell disease in two groups of patients of different ancestral origin, but living in the Eastern Province of Saudi Arabia, are presented. Twenty-eight patients of southwestern origin were matched for gender, age, and diagnosis with an equal number of patients of eastern origin. The disease was diagnosed in all patients at birth, and follow-up study was done on a regular basis. Despite being born and living in the same environment (Eastern Province), patients of southwestern origin had more severe clinical features, consistently lower hemoglobin levels, and higher reticulocyte counts, suggesting more severe hemolysis. We conclude that there are at least two distinct forms of sickle cell disease in the Eastern Province of Saudi Arabia and that the variability of the disease in early childhood is more likely related to genetic than to environmental factors.

Infections and sickle cell disease in Eastern Saudi Arabian children.

The rate and pattern of infections in 144 Saudi Arabian children with sickle cell disease (SCD) and matched normal control subjects are reported. All diagnoses of SCD were made at birth by means of screening blood from the umbilical cord. The children were prospectively followed up from birth to 4 years of age. Severe bacterial infections occurred in none of the children with SCD; one of the control children developed pneumococcal meningitis. Acute gastroenteritis was significantly more common among patients with SCD. For the first year of life, patients with SCD had significantly more infections than did the control children; but the reverse was true in the group that was 37 to 48 months of age. Considering all types of infections for all age groups, no difference was noted between patients with SCD and control subjects in terms of infection rate or related hospital admission. There were no deaths caused by infection in this series. We conclude that Saudi Arabian infants and young children of oasis origin with SCD are not at increased risk of infections compared with healthy children of the same age.

Pneumococcal infections in eastern Saudi Arabia: serotypes and antibiotic sensitivity patterns.

The serotypes and antibiotic sensitivity patterns of Streptococcus pneumoniae infections were studied in 208 patients. Male to female ratio was 3 to 1. The main underlying diseases were cardiopulmonary disease (53%), sickle cell disease (13%), diabetes mellitus (11%) and malignancies (11%). The commonest infections were conjunctivitis, bronchopulmonary infections and otitis media. Serotypes 6 and 19 were the most common, especially in children, constituting 66% of the isolates. All the isolates were sensitive to penicillin, ampicillin and vancomycin, but 65% were resistant to cotrimoxazole. Penicillin, therefore, remains the best antimicrobial agent for treatment. All the serotypes are represented in the polyvalent pneumococcal vaccine available in the country; therefore some benefit can be expected from vaccination especially in the high risk patients.

Serum immunoglobulin and complement levels in patients with sickle cell anaemia from eastern province of Saudi Arabia.

Serum immunoglobulin (IgG, IgA, IgM) and complement (C3, C4) levels were determined in 61 sickle cell anaemia patients of various age groups and both sexes in their steady state by nephelometry. Serum IgG was found to be consistently elevated in 46% cases of all age groups. Increase in the levels of IgA, IgM and in the complement values (C3, C4) was also observed. Although the mechanism responsible for these variations was unclear, however, this study gave an idea about the general pattern of serum immunoglobulin and complement levels in sickle cell anaemia patients from the Eastern Province of Saudi Arabia.

Clinical presentation of systemic lupus erythematosus in Saudi patients.

A study conducted to assess the incidence and clinical expression of systemic lupus erythematosus in the Eastern Province of Saudi Arabia revealed that the disease is uncommon in this region, only 32 cases being recorded in five years. However, the clinical manifestations of the disease are similar to those observed elsewhere.

Relationship of haemoglobin F and alpha thalassaemia to severity of sickle-cell anaemia in the Eastern Province of Saudi Arabia.

To define the natural history of sickle cell anaemia a cord blood screening programme was initiated and during the first 3 years a total of 129 newborns with FS phenotype were detected, of whom 83 infants were followed up regularly. Forty-three of them had attained the ages of between 1 and 3 years and the analysis of their data revealed that in 21 of 43 cohort children (14 FS and 7 FS + Barts) who had almost identically raised levels of haemoglobin F, the clinical manifestations of the disease appeared to be influenced by the size of the RBC, with the microcytic group having a relatively milder clinical course as compared with the normocytics. Similar observations were made in about 50% (47/93) of non-cohort older children and adults with sickle-cell anaemia, suggesting that alpha thalassaemia in combination with increased levels of fetal haemoglobin was probably an important predictor of the clinical severity in patients with sickle-cell anaemia in the Eastern Province of Saudi Arabia.

A genetic marker for elevated levels of haemoglobin F in homozygous sickle cell disease?

Ten patients with sickle cell (SS) disease from a Jamaican family were found to have unusually high levels of haemoglobin F for this population. Each of them has inherited one sickle cell gene on a chromosome characterized by an arrangement of restriction fragment length polymorphisms (haplotype) which is very rare in the Jamaican population. Genetic analysis of the family suggests that there is a determinant linked to the beta-globin gene cluster, characterized by this haplotype, which is responsible for increased haemoglobin F production in response to anaemia. Interestingly this particular haplotype appears to be common in patients with SS disease in eastern Saudi Arabia in whom a high level of haemoglobin F is the rule rather than the exception. Hence it is possible that this haplotype (++-++) acts as a genetic marker for elevated levels of haemoglobin F in sickle cell disease.

A genetic marker for elevated levels of haemoglobin F in homozygous sickle cell disease

Ten patients with sickle cell (SS) disease from a Jamaican family were found to have unusually high levels of haemoglobin F for this population. Each of them has inherited one sickle cell gene on a chromosome characterized by an arrangement of restriction fragment length polymorphisms (haplotype) which is very rare in the Jamaican population. Genetic analysis of the family suggests that there is a determinant linked to the á-globin gene cluster, charaterized by this haplotype, which is responsible for increased haemoglobin F production in response to anaemia. Interestingly this particular haplotype appears to be common in patients with SS disease in eastern Saudi Arabia in whom a high level of haemoglobin F is the rule rather than the exception. Hence it is possible that this haplotype (++-++) acts as a genetic marker for elevated levels of haemoglobin F in sickle cell disease (AU)

Neonatal screening for sickle cell disease in the Eastern Province of Saudi Arabia.

Neonatal screening for sickle cell disease has been established in three hospitals in the Eastern Province of Saudi Arabia. In the first 17 months of this programme, 5630 cord blood samples were screened with the detection of 47 babies with an FS phenotype. The sickle cell trait occurred in 4.4% births in Al Khobar, in 6.7% in Dammam and in 17.9% in Qatif. An apparent excess of the FS phenotype over that predicted from the observed S gene frequency occurred at all three centres. The cause of this excess remains unknown although a high prevalence of sickle cell-beta o thalassaemia and the effects of non-random mating may be contributory factors.

Neonatal screening for sickle cell disease in the Eastern Province of Saudi Arabia

Neonatal screening for sickle cell disease has been established in three hospitals in the Eastern Province of Saudi Arabia. In the first 17 months of this programme, 5630 cord blood samples were screened with the detection of 47 babies with an FS phenotype. The sickle cell trait occurred in 4.4 percent births at Al Khobar, in 6.7 percent in Dammam and in 17.9 percent in Qatif. An apparent excess of the FS phenotype over that predicted from the observed S gene frequency occurred at all three centres. The cause of this excess remains unknown although a high prevalence of sickle cell-beta-o thalassaemia and the effects of non-random mating may be contributory factors. (Summary)