Assessment of the carrier status by pedigree analysis in some families from India

Singh, Monica; Kaur, Harjot

doi:10.1046/j.1365-2516.2002.00654.x

Cited by 6 publications

(4 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Obligate and probable carriers were categorized on the basis of pedigree analysis using Bayesian rule as described earlier. 5…”

Section: Subjectsmentioning

confidence: 99%

Factor VIII Gene Haplotypes and Linkage Disequilibrium for the Indirect Genetic Analysis of Hemophilia A in India

Singh

2007

Clin Appl Thromb Hemost

View full text Add to dashboard Cite

Genomic consequences of factor VIII gene haplotypes for the indirect genetic analysis of haemophilia A has not been done in India hitherto. Consequently, BclI/intron18, HindIII/intron 19, and XbaI/intron 22 restriction sites were investigated in 159 individuals from 42 families with hemophilia A. The frequencies of haplotype II, IV, VI, that is, BclI (+)-HindIII (-)- XbaI (+), BclI (+)HindIII (+)-XbaI (-), and BclI (-)-HindIII (-)-XbaI (+) were 0.312, 0.198, and 0.164 respectively. The high heterogeneity of haplotype II highlighted its potential for indirect genetic diagnosis of factor VIII. Analysis revealed strong but incomplete linkage disequilibrium (D' = 0.76, 0.68, and 0.51) between BclI/HindIII, HindIII/XbaI, and BclI/XbaI, respectively. The overall cumulative polymorphism information content (PIC) of these three markers increased from 0.36 to 0.80. Escalation of PIC up to 80% in the present study suggests that haplotyping of factor VIII gene determines better prognosis in the direction of indirect genetic analysis of hemophilia A.

show abstract

“…Obligate and probable carriers were categorized on the basis of pedigree analysis using Bayesian rule as described earlier. 5…”

Section: Subjectsmentioning

confidence: 99%

Factor VIII Gene Haplotypes and Linkage Disequilibrium for the Indirect Genetic Analysis of Hemophilia A in India

Singh

2007

Clin Appl Thromb Hemost

View full text Add to dashboard Cite

show abstract

“…The pedigrees should be analyzed using all of the available information and the Mendelian law needs to be applied to determine the probability of the female being a carrier. 49,50 Study of the pedigree alone will identify some females as obligate or possible carriers. An obligatory carrier is a woman who has a hemophilic father, more than one hemophilic son or a hemophilic son and a carrier daughter, or a hemophilic son and a well-documented patient with hemophilia on the maternal side of the family.…”

Section: Pedigree Analysismentioning

confidence: 99%

Carrier Detection and Prenatal Diagnosis of Hemophilia in Developing Countries

Peyvandi

2005

Semin Thromb Hemost

View full text Add to dashboard Cite

Hemophilia A and B, inherited as X-linked recessive traits, are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of coagulation factor VIII (FVIII) or FIX, respectively. Hemophilia is prevalent worldwide, without ethnic or geographic limitations, and remains a life-threatening and often disabling condition. Advances in molecular medicine in this century have markedly improved hemophilia treatment. However, management is still largely inadequate in developing countries. Therefore, carrier detection and prenatal diagnosis remain the key steps for the prevention of the birth of children with hemophilia in developing countries where patients with this coagulation disorder rarely live beyond childhood. Carrier detection and prenatal diagnosis are possible by direct or indirect genetic analysis of the F8 or F9 genes. In countries with more advanced molecular facilities and higher budget resources, the most appropriate choice in general is a direct strategy for mutation detection by prescreening techniques or direct mutation detection. However, in countries with limited facilities and low budget resources, carrier detection and prenatal diagnosis are usually performed by linkage analysis with genetic markers. This article suggests the possibilities of genetic diagnosis and a feasible strategy for carrier detection and prenatal diagnosis in families with hemophilia A and B in developing countries.

show abstract

“…Considering the theoretical 400 carriers linked to the 81 PHWs from the HTC of Yopougon, pedigree was of great value to target carriers within PWH’s families. In the absence of molecular testing availability, pedigree is a cost-effective and useful tool for assessing the carrier status of females from PWH’s families and can be of a great help in providing genetic counselling [24]. Family trees were sometimes large and complex to build up.…”

Section: Discussionmentioning

confidence: 99%

Hemophilia carrier’s awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d’Ivoire (Ivory Coast)

Lambert

Meité

Sanogo

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

BackgroundLittle data is available on awareness of hemophilia carrier condition or associated bleeding risk and management in Sub-Saharan African countries. This study sought to identify hemophilia carriers in Côte d’Ivoire in order to collect data on demographics, bleeding phenotype, and laboratory results. Another purpose was to provide Ivorian hemophilia carriers with counseling on their risk of bleeding and of having children with hemophilia. A 12-month prospective study was conducted involving Ivorian hemophilia carriers recruited trough pedigree analysis pertaining to 81 hemophilia patients followed-up at the Yopougon Hemophilia Treatment Center in Abidjan. They were assessed using in-depth interviews, pedigree analysis, and laboratory testing.ResultsSixty-one subjects comprising 27 obligate and 34 possible carriers were recruited. None had previously been assessed, with 64% unaware of their carrier status despite a familial history of hemophilia in 69%. The most frequently reported bleeding symptom was menorrhagia (31%). Prolonged bleeding was reported after vaginal delivery in 19.6%, post-surgery in 4.9%, and post-dental extraction in 4.9%. Only one carrier was treated with tranexamic acid, with no other hemostatic therapy recorded. The median (range) clotting FVIII was 0.85 IU/mL (0.24–1.90 IU/mL) and FIX 0.60 IU/mL (0.42–1.76 IU/mL) in hemophilia A and B carriers, respectively. HA carriers had a FVIII < 0.5 IU/mL in 12.5%.ConclusionsThis study highlights the need of implementing care for hemophilia carriers in developing countries, and the high value of pedigree analysis for carrier identification, along with the relevance of diagnosis, treatment, and education of carriers, families, and caregivers.

show abstract

Assessment of the carrier status by pedigree analysis in some families from India

Cited by 6 publications

References 18 publications

Factor VIII Gene Haplotypes and Linkage Disequilibrium for the Indirect Genetic Analysis of Hemophilia A in India

Factor VIII Gene Haplotypes and Linkage Disequilibrium for the Indirect Genetic Analysis of Hemophilia A in India

Carrier Detection and Prenatal Diagnosis of Hemophilia in Developing Countries

Hemophilia carrier’s awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d’Ivoire (Ivory Coast)

Contact Info

Product

Resources

About