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British Journal of Haematology Jan 2017
Topics: Anemia, Sickle Cell; Erythrocyte Transfusion; Guidelines as Topic; Humans
PubMed: 28092109
DOI: 10.1111/bjh.14346 -
British Journal of Haematology Jan 2017
Topics: Adolescent; Anemia, Sickle Cell; Child; Child, Preschool; Erythrocyte Transfusion; Guidelines as Topic; Humans
PubMed: 27858994
DOI: 10.1111/bjh.14383 -
Journal of Medical Genetics Jun 1986The frequencies of four major red cell genetic defects, sickle haemoglobin (Hb S), glucose 6 phosphate dehydrogenase deficiency (G6PD), and alpha and beta thalassaemia,...
The frequencies of four major red cell genetic defects, sickle haemoglobin (Hb S), glucose 6 phosphate dehydrogenase deficiency (G6PD), and alpha and beta thalassaemia, have been determined in nearly 5000 subjects from the three major Peninsular Arab States, namely Yemen (North and South), the United Arab Emirates, and Oman. All four defects are common with an overall pattern of alpha thalassaemia greater than G6PD deficiency greater than beta thalassaemia greater than Hb A/S. However, the frequencies of these within each state varies and they are, respectively, Oman: 0.389, 0.328, 0.024, and 0.038; the United Arab Emirates: 0.165, 0.087, 0.017, and 0.019; and Yemen: 0.065, 0.062, 0.0624, and 0.0095. Two, namely alpha thalassaemia and G6PD deficiency, are extremely common, but in spite of this there appears to be a lack of observed clinical disease. For example, Hb H disease and Barts hydrops fetalis were not seen and the oxidative haemolytic syndromes are rare.
Topics: Adult; Anemia, Sickle Cell; Erythrocytes; Ethnicity; Female; Gene Frequency; Glucosephosphate Dehydrogenase Deficiency; Hemoglobin, Sickle; Humans; Infant, Newborn; Male; Oman; Pregnancy; Sickle Cell Trait; Thalassemia; United Arab Emirates; Yemen
PubMed: 3723553
DOI: 10.1136/jmg.23.3.245 -
Annals of Saudi Medicine 2010Hemoglobin Barts hydrops fetalis syndrome is the most severe and generally fatal clinical phenotype of alpha-thalassemia. We diagnosed a fetus at 23-weeks gestation with...
Hemoglobin Barts hydrops fetalis syndrome is the most severe and generally fatal clinical phenotype of alpha-thalassemia. We diagnosed a fetus at 23-weeks gestation with having hydrops fetalis, by ultrasound. At 32 weeks, intrauterine death was detected. Molecular studies revealed that the fetus had the hemoglobin Barts hydrops fetalis syndrome due to homozygosity for the Mediterranean alpha-thalassemia deletion. This clinical phenotype is generally rare in the Eastern Mediterranean, and this is the first report of this syndrome from Iraq. Techniques for molecular characterization became available only very recently in this country, in a diagnostic setting. Thus, the detection of further cases might be expected in future.
Topics: Consanguinity; Female; Gene Deletion; Hemoglobins; Homozygote; Humans; Hydrops Fetalis; Infant, Newborn; Male; Phenotype; Pregnancy; Stillbirth; Syndrome; Ultrasonography; Young Adult; alpha-Thalassemia
PubMed: 20220267
DOI: 10.4103/0256-4947.60523 -
Journal of Infection and Public Health 2008Children with sickle cell disease (SCD) are at high risk of severe infection with Streptococcus pneumoniae (SP). From 2002, all children aged <5 years in the UK with SCD...
Nasopharyngeal carriage rate of Streptococcus pneumoniae in children with sickle cell disease before and after the introduction of heptavalent pneumococcal conjugate vaccine.
Children with sickle cell disease (SCD) are at high risk of severe infection with Streptococcus pneumoniae (SP). From 2002, all children aged <5 years in the UK with SCD were recommended 7-valent pneumococcal conjugate vaccine (PCV-7) in infancy and 23-valent pneumococcal polysaccharide vaccine boosting, in addition to regular penicillin prophylaxis. Our objective was to determine the nasopharyngeal (NP) carriage rate of SP in children aged <5 years with SCD before and after vaccination with PCV-7 (by vaccine, cross-protection and non-vaccine serotypes). NP swabs were obtained from 63 children attending the Royal London Hospital or Newham General Hospital paediatric haematology clinic between April 2001 and April 2002. Later, NP swabs were obtained from 43 children attending the clinic between June and December 2004 after a PCV-7 vaccination programme. All SP isolated by culture were serotyped and susceptibility to penicillin measured. In the first study group, 13 samples grew SP with 1 sample containing 2 different serotypes, giving a carriage rate of 21%. Four (31%) were intermediately susceptible to penicillin. In the second group overall NP carriage rate had decreased to 9% (n=4), and the proportion directly or indirectly covered by the PCV-7 vaccine fell from 13/14 to 2/4 (P=0.11). One (25%) of these isolates was intermediately susceptible to penicillin. The introduction of PCV-7 appears to be associated with a shift in distribution of serotypes carried by children with SCD. This may have implications for vaccine effectiveness.
Topics: Anemia, Sickle Cell; Antibiotic Prophylaxis; Carrier State; Child, Preschool; Cohort Studies; Female; Heptavalent Pneumococcal Conjugate Vaccine; Humans; Infant; Male; Nasopharynx; Pneumococcal Infections; Pneumococcal Vaccines; Risk Factors; Streptococcus pneumoniae; United Kingdom
PubMed: 20701844
DOI: 10.1016/j.jiph.2008.08.005 -
British Journal of Haematology May 2018
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Anemia, Sickle Cell; Hematology; Hydroxyurea; Societies, Medical; United Kingdom
PubMed: 29732531
DOI: 10.1111/bjh.15235 -
Circulation Aug 2016
Ultrafast Magnetic Resonance Imaging for Iron Quantification in Thalassemia Participants in the Developing World: The TIC-TOC Study (Thailand and UK International Collaboration in Thalassaemia Optimising Ultrafast CMR).
Topics: Adult; Female; Heart; Humans; International Cooperation; Iron; Iron Overload; Liver; Magnetic Resonance Imaging; Male; Middle Aged; Thailand; Thalassemia; Time Factors; Transfusion Reaction; United Kingdom; Young Adult
PubMed: 27482005
DOI: 10.1161/CIRCULATIONAHA.116.022803 -
Blood Feb 1986A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was...
A new gene deletion in the alpha-like globin gene cluster as the molecular basis for the rare alpha-thalassemia-1(--/alpha alpha) in blacks: HbH disease in sickle cell trait.
A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. This particular deletion has not previously been described in blacks. Its existence makes it likely that the absence of Hb Barts hydrops fetalis in blacks is due to the rarity of the chromosome lacking two alpha-globin genes rather than a result of early embryonic death due to the failure to synthesize embryonic hemoglobins because of deletion of functional zeta-globin genes.
Topics: Anemia, Sickle Cell; Black People; Chromosome Deletion; Genes; Genetic Vectors; Globins; Hemoglobin H; Hemoglobin, Sickle; Hemoglobins, Abnormal; Humans; Nucleic Acid Hybridization; Pedigree; Sickle Cell Trait; Thalassemia
PubMed: 3942832
DOI: No ID Found -
British Journal of Haematology Aug 2017
Topics: Abortion, Spontaneous; Acute Chest Syndrome; Anemia, Sickle Cell; Biomarkers; Comorbidity; Female; Ghana; Hospitalization; Humans; Male; Phenotype; Pregnancy; Symptom Assessment; Ulcer
PubMed: 27221529
DOI: 10.1111/bjh.14154 -
British Medical Journal (Clinical... Aug 1984Between 1981 and 1983, 3165 consecutive specimens of cord blood were tested at the Central Middlesex Hospital for the presence of an abnormal haemoglobin: the incidence...
Between 1981 and 1983, 3165 consecutive specimens of cord blood were tested at the Central Middlesex Hospital for the presence of an abnormal haemoglobin: the incidence of sickle cell trait was 2.8%, of HbC trait 0.9%, and the overall incidence of an abnormal haemoglobin at birth was 6.9%. Five babies with homozygous sickle cell disease, three with HbSC, and three with either HbCC or HbC beta thalassaemia were detected. Twenty two per cent of the mothers were of Afro-Caribbean origin. The cost of the test was 30p. An H6000 blood count was carried out on 1000 consecutive cord blood samples. The mean red cell volume was 97.95 (SD 3.67) fl. Thirteen cord blood samples had a mean cell volume below 85 fl, and all contained Hb Barts. In addition, six samples with a mean cell volume between 86 and 92 fl also showed Hb Barts on electrophoresis. The overall incidence of Hb Barts was 2.1%. These results indicate that the incidence of HbSS and HbSC on neonatal screening in Brent is similar to that found in the urban areas of North America and that the number may be predicted from the number of births to mothers of Afro-Caribbean origin.
Topics: Anemia, Sickle Cell; Ethnicity; Fetal Blood; Hemoglobin C Disease; Hemoglobin SC Disease; Hemoglobins, Abnormal; Humans; Infant, Newborn; London; Mass Screening; Phenotype; Thalassemia
PubMed: 6432149
DOI: 10.1136/bmj.289.6443.479