Molecular basis of benign from sickle cell-B thalassemia syndrome in two nahraini patients

The aim was to study the different molecular determinants that might cause an extremely mild form of sickle cell beta thalassemia syndrome among our population. Two Bahraini students belonging to two unrelated families with normal clinical picture were noticed to have sickle cell beta thalassemia syndrome through hemoglobin electrophoresis. Different molecular genetic techniques were employed to study blood samples from these girls, namely, the polymerase chain reaction-restriction fragment polymorphism [PCR-RFLP], denaturing gradient gel electrophoresis [DGGE], and differential PCR amplification. Three different molecular determinants were found in these students for the beta. globin gene: Compound heterozygosity for the sickle cell mutation and nt 88 [C to A] mutation. Haplotype were shown to be the Saudi-Indian haplotype for the sickle cell mutation and haplotype No. IX for nt. 88 [C to A] mutation. Alpha- globin gene mapping revealed homozygosity for the rightward deletion [--alpha [3.7]/ -alpha[3.7]] for both students. different molecular determinants were found in association with this mild form of sickle cell beta-thalassemia disease: namely inheritance of mild beta+ thalassemic mutation, HbS haplotype- associated high HbF expression, and coinheritance of alpha-thalassemia. All of these modulators were found to give a mild state of sickle cell disease in our patients. This indicates that, molecular diagnostics techniques are of invaluable importance in giving a precise and definitive diagnosis, and to predict the clinical manifestation

Student screening for inherited blood disorders in Bahrain

In Bahrain and neighbouring countries inherited disorders of haemoglobin, i.e. sickle-cell disease, thalassaemias and glucose-6-phosphate dehydrogenase [G6PD] deficiency, are common. As part of the National Student Screening Project to determine the prevalence of genetic blood disorders and raise awareness among young Bahrainis, we screened 11th-grade students from 38 schools [5685 students], organized lectures and distributed information about these disorders. Haemoglobin electrophoresis, high performance liquid chromatography, blood grouping and G6PD deficiency testing were performed. Prevalences were: 1.2% sickle-cell disease; 13.8% sickle-cell trait; 0.09% beta-thalassaemia; 2.9% beta-thalassaemia trait; 23.2% G6PD deficiency; 1.9% G6PD deficiency carrier. Health education, carrier screening and premarital counselling remain the best ways to reduce disease incidence with potentially significant financial savings and social and health benefits

Review of the spectrum of genetic diseases in Bahrain

This paper looks at some of the studies on genetic disorders conducted in Bahrain. The disorders covered include: genetic blood disorders, metabolic disorders, chromosomal disorders, including Down syndrome, and cystic fibrosis. The rate of consanguinity in Bahrain and the results of premarital counselling are also discussed

Chromosomal abnormalities in 500 referred cases in Bahrain

Study the incidence and pattern of major chromosomal abnormalities in a Bahraini population suspected of having chromosomal abnormality on the basis of physical and/or development clinical features. Design: Cytogenetic studies were performed on five hundred patients. Setting: Genetic Clinic, Salmaniya Medical Centre, Bahrain during the period from 1984-1991. Main Outcome: 134[27%] patients had abnormal karyotype, 97[19%] patients had numerical abnormalities and 37 [7%] had structural chromosomal abnormalities. The majority of patients [66%] with numerical abnormalities had trisomy 21, 4% had trisomy 13, and 4% had trisomy 18. Cases of X chromosome abnormalities were found in 13% of the abnormal cases, while 12% were having abnormality of other chromosomes. This study demonstrates the spectrum of chromosomal abnormality in Bahrain but not the prevalence of these abnormalities in the country as it was only performed on a small number of patients

Prevalence of antibodies to the hepatitis C virus [anti-HCV] in Bahraini patients on hemodialysis

This study was conducted to assess the prevalence of Hepatitis C[HCV] Antibodies, its relation to duration of hemodialysis, blood transfusions and effects on liver enzymes, among Bahraini patients on Hemodialysis. The prevalence of HCV Antibodies is high among our patients

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

Features of sickle-cell disease in Bahrain

Genetic disorders of haemoglobin are prevalent in Bahrain. In a study of the hospital population covering 56 198 Bahrainis, we found that 2% of newborns have sickle-cell disease [SCD] and 18% have sickle-cell trait, while 24% are carriers of the [-thalassaemia gene. In a study of the presentation of SCD among Bahrainis it was found that the mild form of the disease predominates, but a wide clinical variability is apparent. It was also found that their haematological values are similar to those of patients from Eastern Province, Saudi Arabia, where the mild form of the disease predominates

Epidemiology of congenital abnormalities in Bahrain

This study was carried out in order to find out the incidence of congenital anomalies in Bahrain. Statistics of the Bahraini Ministry of Health for 11 years from 1980 to 1990 were studied. The overall incidence rate of congenital anomalies in Bahrain was found to be 2.7% of live births. Each anomaly was studied separately and compared with the incidence in other countries, whenever possible. It was found that anomalies of the musculoskeletal system have the highest incidence [2.28 per 1000], followed by the genitourinary system [2.13 per 1000], while the incidence of chromosomal disorders was 0.9 per 1000

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

Profile of attendance in accident and emergency department: Salmaniya medical centre

Accident and Emergency Department [A and E] of Salmaniya Medical Centre [SMC] is designed to manage life threatening and urgent medical conditions. The Salmaniya Medical Centre Accident and Emergency Department serves all the population of Bahrain. The Department served 144997 patients in 1991 and 163044 patients in 1992. This study was undertaken to evaluate the patterns of attendance at the SMC/A and E department

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