Incidence of cystic fibrosis in Bahrain

Cystic Fibrosis [CF] is a hereditary multi system disease transmitted as an autosomal recessive, leading to chronic pulmonary disease, pancreatic enzyme deficiency and abnormally high sweat electrolytes. It is considered predominantly a disorder of Caucasians of European descent. The following study refers to an intensive retrospective search for patients with cystic fibrosis from clinical data, hospital record in Salmaniya Medical Centre [SMC], with the aim of determining the incidence of cystic fibrosis in Bahrain. The survey included 27 confirmed cases of cystic fibrosis born during the period 1978-1994. Diagnosis was established by presence of a high sweat sodium and chloride [70 mmoI/1]. The mean incidence during this period was found to be one in 7,700, all cases were diagnosed during the first year of life, and 60% were diagnosed in the first three months of life. Male and female ratio was found to be 14/13 [1:1]. The incidence of meconum ileus was 16%. Mortality in the neonatal period was 60%. First cousin marriage rate among these families was 63%

Beta globin gene haplotypes in Bahraini patients with sickle cell anemia

Molecular genetic studies were undertaken to determine the haplotype of chromosomes carrying the sickle cell allele in Bahraini patients, and hence allow consideration of the possible source of these alleles. A total of 59 individuals form 19 families were studied. Of these, 35 were affected with sickle cell anaemia, and 24 were carriers. Haplotypes were investigated by PCR amplification of globin target sequences followed by restriction digestion using HindIII, AvaII, HindII, and HinfI polymorphism. In the 19 families the Bs gene was found to be linked to the haplotypes +++++- [also known as the Asian haplotype] in 33 chromosomes [90%], to the haplotype +-+-++ known as the S2 haplotype in 2 chromosome [5%], the haplotype S1 [-++++] in one chromosome [2.5%], and to the haplotype --+--+ found in association with beta thalassaemia in one family [2.5%]. Our study shows that the Asian haplotype is predominant in Bahrain [90%]. This haplotype has previously been found to be linked to a benign sickle cell anaemia. The African haplotype S1 was found in one family only

Hematological characteristics in adult Bahraini sickle cell disease patients

This is a study of the haematological picture of Bahrain sickle cell disease patients. Blood samples from 50 Bahraini patents with sickle cell disease [SCD] were collected and analysed. The age of these patients ranged from 15-50 years. We found that 60% of the patients have Hb lower than 10gm/clll, and that only 8.8% have Hb above 12mg/dl. 57% of these patients have HCT below 30. 64% have MCH below 25pg. 62% have MCV below 76fl which indicate microcytosis. We also found that the blood picture is consistent with the mild form of the disease

nature of sickle cell disease in Bahrain

This study was conducted with a view of ascertaining the nature of the sickle cell disease [SCD] in our population. The study was broadly divided into 2 parts-one being community based, where 100 student with sickle cell disease fill in a questionnaire about the disease. The other part being hospital based, where 70 files of SCD patient admitted to SMC with sickle cell crisis were reviewed. We found that the main precipitating factor of painful crisis is exposure to cold, fever, infction, and exhaustion. The most common symptoms were pain, fever. Seventy% of these patients thought that premarital counseling is essential from the 2nd study the main signs were anaemia 92%, abdominal pain, hepatomegaly jaundice, and urinary tract infection

Incidence of genetic disorders of haemoglobins in the hospital population of Bahrain

In a retrospective study, blood samples of 56198 Bahraini nationals received at the Pathology Department in Salmaniya Medical Centre over the six-year period 1982-1987 were analysed. Of the total, 5503 were neonatal samples and the rest non-neonatal. Amongst the latter, 68.82% showed abnormal haemoglobin, 56.56% showed sickle cell trait, 10.44% showed sickle cell disease and 1.82% showed other forms of abnormal haemoglobins including rarer ones. Amongst the neonatal samples, abnormal haemoglobin were detected in 44.35%: 24.2% were alph-thalassaemia cases, 18.10% were sickle cell traits, and 2.1% were sickle cell disease. The highly variable concentration of the abnormal haemoglobin in both groups was also studied and analysed. Such high incidence of abnormal haemoglobin gene necessitates a prospective detailed study of the problem in general population followed by genetic counseling

Cytogenetics of fetal wastage in Bahrain

A consecutive series of fifty couples with a history of fetal wastage was studied cytogenetically with current banding techniques. Fetal wastage was defined as occurring in couples who had more than two early abortions, still-birth[s] of live-birth[s] or both of infants with multiple congenital anomalies. One couple was found to be balanced reciprocal translocation carriers. One woman was found to have Robertsonian Translocation, another woman was found to be mosaic [46, XX, 47, XXX]; and one husband was found to have pericentric inversion of Y chromosome. We find that parental chromosome abnormalities account for fetal wastage in 8% of couples having such a history

Fragile X-syndrome in a Bahraini family

Fragile X syndrome [Martin Bell Syndrome] has been the subject of wide medical interest in the past decade. We are reporting the first cases in a Bahraini family documented to have fragile X syndrome. Four sibs and a maternal brother have mental retardation with the typical clinical and cytogenetic picture of the syndrome