Neonatal screening for sickle cell disorders

Henthorn, Joan; Almeida, António; Davies, Sally C.

doi:10.1046/j.1365-2141.2003.04775.x

Cited by 38 publications

(24 citation statements)

References 18 publications

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“…6 It allows prophylaxis with penicillin and vaccines, but also parent training to identify complications and to avoid the high mortality rate in this population by severe overwhelming infections and splenic sequestrations crises. 7,8 Our study has reported two deaths of SCD neonates (one was related to insufficient prophylactic penicillin treatment) and a couple who refused all the treatments for their compound Hb SC child. These cases must be recognized as resulting from a lack of family education.…”

Section: Resultsmentioning

confidence: 99%

Neonatal haemoglobinopathy screening: review of a 10-year programme in Brussels

et al. 2006

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Since 1994, a neonatal screening programme for major haemoglobinopathies has been conducted in Brussels. We performed a 10-year re-evaluation of the incidence of haemoglobinopathies in Brussels and found that of the 118,366 newborns screened, 64 were diagnosed with a sickle cell syndrome, six had a b-thalassaemia major, four had a haemoglobin C disease and three had a haemoglobin H disease. Of the 64 babies with a sickle cell disease, two died before the age of two years and two did not present at the first neonatal visit. Of the six babies suffering from a b-thalassaemia major, all are alive and two have undergone a haematopoietic stem cell transplantation. The universal neonatal screening programme for haemoglobinopathies should be maintained in Brussels.

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Section: Resultsmentioning

confidence: 99%

Neonatal haemoglobinopathy screening: review of a 10-year programme in Brussels

et al. 2006

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“…17 Hb electrophoresis has fallen out as a laboratory approach for neonatal screening although it was used in early studies. IEF and CE -HPLC are now the methods of choice.…”

Section: Ce-hplc For Newborn Screening Of Hemoglobinopathiesmentioning

confidence: 99%

HPLC studies in hemoglobinopathies

et al. 2007

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An accurate diagnosis of beta -thalassemia carriers, homozygous patients and identification of different structural hemoglobin variants is important for epidemiological studies as well as for management and prevention of the major hemoglobin disorders. There are many electrophoretic and chromatographic approaches for estimation of HbA2 and Hb F but cation exchange HPLC (CE-HPLC)using automated dedicated machines like the Variant Hb testing system have become the method of choice for these investigations. CE-HPLC also helps in the presumptive identification of many abnormal hemoglobin variants and has been useful for both neonatal screening of sickle cell disease as well as second trimester prenatal diagnosis of thalassemia by fetal blood analysis. Other applications of HPLC in hemoglobinopathies include separation of globin chains, measuring the ratio of gamma globin chains (Ggamma/Agamma) and the recently described denaturing HPLC for detecting mutations in both alpha and beta globin genes.

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“…Five different haplotypes (haplotypes 19,20,17,3,31) labmedicine.com to early diagnosis, prophylactic penicillin therapy to prevent fatal pneumococcal sepsis, parental education, and comprehensive medical care. 10 In order for the programs to be effective, they should include education, laboratory testing, and counseling. 11 Grosse and colleagues reviewed several studies that compared the cost of universal screening with that of selective screening of children from particular ethnic groups in the United States and the United Kingdom.…”

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confidence: 99%