COMPOUND HETEROZYGOSITY FOR Hb S AND Hb C COEXISTING WITH AIDS: A CAUTIONARY TALE

Hemoglobin ◽  
2001 ◽  
Vol 25 (3) ◽  
pp. 347-351 ◽  
Author(s):  
Christine Lawrence ◽  
Ronald L. Nagel
Keyword(s):  
Compound Heterozygosity ◽  
Cautionary Tale ◽  
Hb S ◽  
Hb C

scholarly journals Reverse dot-blot detection of the African-American beta-thalassemia mutations

Blood ◽  
1995 ◽  
Vol 86 (4) ◽  
pp. 1580-1585 ◽  
Author(s):  
P Sutcharitchan ◽  
R Saiki ◽  
TH Huisman ◽  
A Kutlar ◽  
V McKie ◽  
...  
Keyword(s):  
African American ◽  
African Americans ◽  
Ethnic Groups ◽  
Accurate Method ◽  
Beta Thalassemia ◽  
Dot Blot ◽  
Pcr Products ◽  
Hb S ◽  
Reverse Dot Blot ◽  
Hb C

DNA-based diagnosis of the beta thalassemias provides accuracy to newborn screening genetic counseling, and prenatal diagnosis. However, the use of polymerase chain reaction (PCR)-based methods is challenged by the great number of different-beta-thalassemia mutations that exist even within defined ethnic groups. In this regard, the reverse dot-blot method offers a means of screening for several mutations with a single hybridization reaction. We have applied the reverse dot-blot method to the detection of the beta-thalassemia mutations of African-Americans. We used two biotin-labeled primer pairs in a duplex reaction to amplify and label two beta-globin target DNA fragments that encompass all known African-American beta-thalassemia mutations. The PCR products were denatured and hybridized to polyT-tailed, membrane-fixed, allele- specific probe pairs for the hemoglobin (Hb) S, Hb C, and 14 beta- thalassemia mutations and their corresponding wild-type sequences. Seven common mutations plus Hb S and Hb C were included on one diagnostic strip, and seven less common beta-thalassemia mutations were included on another strip. Carefully controlled, high stringency hybridization allowed accurate distinction of these alleles. Reverse dot-blot diagnosis of the less common beta-thalassemia mutations precludes the need for alternative, more technically challenging methods. This method provides a rapid, accurate method for diagnosis of beta thalassemia among African-Americans and other ethnic groups in which beta thalassemia occurs.

scholarly journals Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study

2015 ◽  
Vol 133 (5) ◽  
pp. 439-444 ◽  
Author(s):  
Aline Menezes Carlos ◽  
Renata Andréia Volpe Souza ◽  
Bruna Maria Bereta de Souza ◽  
Gilberto de Araujo Pereira ◽  
Sebastião Tostes Júnior ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Screening Program ◽  
Cross Sectional Study ◽  
Alkaline Ph ◽  
Sectional Study ◽  
Cross Sectional ◽  
Hb E ◽  
Hb S ◽  
Neonatal Screening Program ◽  
Hb C

ABSTRACT CONTEXT AND OBJECTIVE: Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Screening Program. DESIGN AND SETTING: Cross-sectional study conducted in a public referral hospital in the Triângulo Mineiro region, Minas Gerais, Brazil. METHODS: Qualitative assessment of hemoglobin was performed through electrophoresis on cellulose acetate: at alkaline pH to identify the hemoglobin (Hb) profile and at acid pH to differentiate Hb S from Hb D and Hb C from Hb E and others that migrate to similar positions at alkaline pH. Neutral pH was used to detect Hb Bart's identified in alpha thalassemia (α-thal). The elution method after electrophoresis was used to quantitatively assess hemoglobins. RESULTS: There was predominance of α-thal, with 105 cases (10.46%), followed by Hb S with 61 cases (6.08%, comprising 46 Hb AS, 2 Hb SS and 13 Hb S/α-thal), 9 cases (0.9%) of Hb AC and 6 cases (0.6%) suggestive of beta thalassemia (β-thal). The frequency of hemoglobinopathies was significantly higher among Afro-descendants. CONCLUSIONS: These findings corroborated of the National Neonatal Screening Program for diagnosing sickle cell disease and Hb C, Hb D, Hb E and β-thal hemoglobinopathies.

Compound Heterozygosity for Hb S [β6(A3)Glu→Val, GAG→GTG] and a New Thalassemic Mutation [β132(H10)Lys→Term,AAA→TAA] Detected in a Family from West Africa

Hemoglobin ◽  
2008 ◽  
Vol 32 (3) ◽  
pp. 309-313 ◽  
Author(s):  
Hannes Frischknecht ◽  
Heinz Troxler ◽  
Jeanette Greiner ◽  
Heinz Hengartner ◽  
Fabrizio Dutly
Keyword(s):  
West Africa ◽  
Compound Heterozygosity ◽  
Hb S

MODIFICATION IN THE FREQUENCY OF Hb C AND Hb S IN BURKINA FASO: AN INFLUENCE OF MIGRATORY FLUXES AND IMPROVEMENT OF PATIENT HEALTH CARE

Hemoglobin ◽  
2002 ◽  
Vol 26 (2) ◽  
pp. 113-120 ◽  
Author(s):  
Jacques Simpore ◽  
Salvatore Pignatelli ◽  
Sergio Barlati ◽  
Salvatore Musumeci
Keyword(s):  
Health Care ◽  
Burkina Faso ◽  
Patient Health ◽  
Hb S ◽  
Hb C

scholarly journals Hemoglobins in Togolese Newborns: Hb S, Hb C, Hb Bart's, and α-Globin Gene Status

1998 ◽  
Vol 59 (3) ◽  
pp. 208-213 ◽  
Author(s):  
Akueté Yvon Segbena ◽  
Claude Prehu ◽  
Henri Wajcman ◽  
Josiane Bardakdjian-Michau ◽  
Kodjovi Messie ◽  
...  
Keyword(s):  
Globin Gene ◽  
Hb S ◽  
Gene Status ◽  
Hb Bart's ◽  
Hb C

Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A)

Hemoglobin ◽  
2016 ◽  
Vol 40 (3) ◽  
pp. 208-209
Author(s):  
Maria O. Boucher ◽  
David H.K. Chui ◽  
Bruce A. Woda ◽  
Peter E. Newburger
Keyword(s):  
Microcytic Anemia ◽  
Compound Heterozygosity ◽  
Hb C

Compound heterozygosity for two β chain variants Hb S [β6(A3)Glu → val] and the high affinity variant Hb san diego [β109(G11)Val → met]

Hemoglobin ◽  
1995 ◽  
Vol 19 (1) ◽  
pp. 27-32
Author(s):  
D. Williamson ◽  
D. J. Perry ◽  
K. Brown ◽  
J. V. Langdown ◽  
C. de Silva
Keyword(s):  
San Diego ◽  
Compound Heterozygosity ◽  
High Affinity ◽  
Hb S ◽  
Β Chain

scholarly journals Triagem neonatal para hemoglobinopatias: experiência de um ano na rede de saúde pública do Rio Grande do Sul, Brasil

2006 ◽  
Vol 22 (8) ◽  
pp. 1709-1714 ◽  
Author(s):  
Camila K. Sommer ◽  
Ana Stela Goldbeck ◽  
Sandrine C. Wagner ◽  
Simone M. Castro
Keyword(s):  
Rio Grande ◽  
Rio Grande Do Sul ◽  
Hb S ◽  
Hb C

As hemoglobinopatias são as desordens hereditárias mais comuns nos seres humanos, sendo que as mais freqüentes são as hemoglobinas S e C (Hb S e Hb C). Estudos realizados no Brasil mostram a alta prevalência de heterozigotos para Hb S e Hb C, indicando a necessidade de seu diagnóstico, permitindo o atendimento médico e o aconselhamento genético adequados. O presente estudo avaliou a prevalência dos padrões hemoglobínicos em diferentes regiões do Estado do Rio Grande do Sul, Brasil, obtidos de recém-nascidos atendidos pela rede de saúde pública. Amostras de sangue coletadas sob papel filtro de 117.320 recém-nascidos e de 2.389 pais de recém-nascidos foram avaliadas por FIE e HPLC. Dentre os recém-nascidos, 1.629 (1,4%) apresentaram padrão hemoglobínico alterado: 1.342 FAS, 225 FAC, 45 FAD, 2 FSC, 1 FS e 26 heterozigotos para variantes raras. Concluiu-se que os métodos utilizados são capazes de identificar com alta especificidade e sensibilidade uma grande variedade de padrões hemoglobínicos. As informações são importantes para tornar possível o planejamento e alocação de recursos, além de ser um mecanismo de transmissão de conhecimentos para profissionais de saúde.

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