Detection of Hemophilia A Carriers in Azeri Turkish Population of Iran

Moharrami, Tamouchin; Derakhshan, Sima Mansoori; Pourfeizi, Abbas Ali H.; Khaniani, Mahmoud Shekari

doi:10.1177/1076029614526638

Cited by 6 publications

(7 citation statements)

References 12 publications

(21 reference statements)

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“…22 Other studies have been distributed in different parts of the country; a number of them were performed for carrier detection with simple and less expensive methods. [25][26][27][28][29] As with HA, molecular studies on HB patients have been rarely performed. Only a small number of Iranian patients were analyzed for underlying gene defects.…”

Section: Diagnosis Of Hemophilia In Iranmentioning

confidence: 99%

Hemophilia in Iran

2016

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Section: Diagnosis Of Hemophilia In Iranmentioning

confidence: 99%

Hemophilia in Iran

2016

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“…Although sporadic cases result from de novo mutations (20), carrier detection and prenatal diagnosis is critical for reducing the number of births of children with hemophilia in developing countries, where patients with this particular coagulation disorder rarely survive beyond childhood (25). Molecular analysis techniques, including the direct and indirect analysis of the FVIII gene sequence have increased the detection rate of HA carriers (22). Genetic counseling, carrier testing, and prenatal diagnosis of hemophilia have become an integrated aspect of the comprehensive care for hemophilia during the past three decades.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, there is a requirement to establish the specific markers linked to the FVIII gene in each population (22). The heterozygosity rate (HR) of each marker in the control population requires investigation to identify suitable markers for genetic diagnosis in the given study population in order to perform efficient tracking of the chromosome carrying the mutant gene.…”

Section: Discussionmentioning

confidence: 99%

“…Additional polymorphic markers were used in numerous studies; in a study of a Chinese population by Sun et al (32) HRs of 26.3 and 15.8% for BclI (polymorphic site in intron 18) and HindIII (polymorphic site in intron 19), respectively were observed; whereas, in a Turkish population, HRs were 47 and 35% for BclI and HinIII, respectively (22). It is possible that these two polymorphism markers are less informative in a Chinese population.…”

Section: Discussionmentioning

confidence: 99%

“…Short tandem repeats (STRs), restriction fragment length polymorphism (RFLP), and variable number tandem repeats (VNTR) are used as polymorphic markers. Linkage analysis is a common indirect method for detection of female carriers in families with HA (22). In the present study, a combination of intragenic and extragenic STR markers was used in linkage analysis for carrier diagnosis in a Chinese HA family.…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A

Sabina

Dong

et al. 2016

Biomedical Reports

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Abstract. Hemophilia A (HA) is the most common inherited X-linked recessive bleeding disorder caused by heterogeneous mutations in the factor VIII gene (FVIII). Diagnosis of the carrier is critical for preventing the birth of children affected by this coagulation disorder, which ultimately facilitates its management. Due to the heterogeneous nature of mutations, the large inversions and the complexity of the FVIII gene, direct recognition of the disease-associated mutation in HA is complex. Indirect linkage analysis using highly informative heterozygous polymorphic markers is an alternative method for determining the co-segregation of the mutant gene within a family for carrier detection of HA. The aim of the present study was to perform carrier diagnosis in a family with HA. Rapid multifluorescent polymerase chain reaction (PCR) was performed with six extragenic short tandem repeats (STRs), DXS1073, DXS15, DXS8091, DXS1227, DXS991, DXS993 and one intragenic marker, STR22 for linkage analysis in the HA family. All the STR markers employed in the present study were informative for linkages of pathogenic and healthy haplotypes among family members, particularly STR22, DXS1073 and DXS15. The STR marker, STR22, is within the FVIII gene while the DXS1073 and DXS15 markers are very close to the FVIII gene, where the chances of recombination are comparatively low, and provided the most accurate interpretation analysis, indicating that the proband's sister may have been the HA carrier. Rapid multifluorescent PCR using STR markers and linkage analysis was identified to be a simple method for performing HA carrier diagnosis.

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Bleeding risk assessment in hemophilia A carriers from Dakar, Senegal

Seck

Faye²,

Sall³

et al. 2017

Blood Coagulation &Amp; Fibrinolysis

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: Hemophilia A carriers have an abnormal X chromosome with a molecular abnormality of FVIII gene. These carriers, long considered to be free of bleeding risk, could have the same symptoms as mild hemophiliacs. This study aim to assess bleeding risk of hemophilia A carriers monitored at the Clinical Hematology Department of Dakar. This is a prospective study of a period of 6 months including 22 hemophilia A carriers aged between 8 and 48 years. Hemophilia carriers were recruited using the genealogical tree of hemophiliacs followed in the service. Their diagnosis was carried out by long range PCR and Sanger sequencing method searching the molecular abnormality responsible for hemophilia in their family. Bleeding risk was determined using a questionnaire consisting of different bleeding symptoms quoted from -1 to 4 according to the severity. Total of different values allow to determine the bleeding score which was pathological if it was greater than or equal to 1. Medium age was 22.5 years (8-48) (SD = 9.28). Four hemophilia A carriers (18.1%) presented bleeding symptoms and had a bleeding score at least 1 (P = 0.02). Menorrhagia was predominant (13.6%) followed by epistaxis (9%), gingivorrhagia (9%), and prolonged bleeding after tooth extraction (9%). Factor VIII level was lower in hemophilia carriers who presented bleeding (42 ± 8.61 UI/l) versus hemophilia carriers without bleeding (100 ± 50.95 UI/l) (P = 0.001). There was no significant correlation between bleeding occurrence and age (P = 0.81), activated patial thromboplastin time value (P = 0.97) and FVIII/Von Willebrand Factor ratio (P = 0.12). One in five hemophilia carriers presented bleeding and the questionnaire was effective to identify hemophilia carriers who had a risk of bleeding.

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Detection of Hemophilia A Carriers in Azeri Turkish Population of Iran

Cited by 6 publications

References 12 publications

Hemophilia in Iran

Hemophilia in Iran

Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A

Bleeding risk assessment in hemophilia A carriers from Dakar, Senegal

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