GENEALOGICAL, GENETIC, BIOCHEMICAL ANALYSIS OF BAR’S BODY IN HEMOPHILIA TYPE A

Session

Nursing and Medical Sciences

Description

This study was included in a sample of 6000 individuals of the population of Presevo and villages. During family interviews we encountered cases, in women carriers with hemophilia while boys hemophiliac. Assuming that the sex X chromosome is inactive, we did not have the opportunity for women to be hemophilic. By doing the genealogical analysis of these families we will present the thoughts about the role of Bar's body when it comes to type A hemophilia. For these cases of hemophiliacs laboratory, biochemical and genetic analyzes have been done to observe the level of penetration and expressiveness of factor VIII. We will present through the genetic tree the origin or genealogy of the gene for this disease. Based on biochemical and genetic analysis using PCR, we will present the level of factor I, IX, XI, aTTP, vWF- Von Willebrandov factor, locus Xq28, genotype ccddee, fibrinogen, blood group, rhesus factor in hemophiliacs included in this study.

Keywords:

Bar's body, hemophilia, genealogical tree, PCR

Proceedings Editor

Edmond Hajrizi

ISBN

978-9951-550-95-6

Location

UBT Lipjan, Kosovo

Start Date

28-10-2023 8:00 AM

End Date

29-10-2023 6:00 PM

DOI

10.33107/ubt-ic.2023.206

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Oct 28th, 8:00 AM Oct 29th, 6:00 PM

GENEALOGICAL, GENETIC, BIOCHEMICAL ANALYSIS OF BAR’S BODY IN HEMOPHILIA TYPE A

UBT Lipjan, Kosovo

This study was included in a sample of 6000 individuals of the population of Presevo and villages. During family interviews we encountered cases, in women carriers with hemophilia while boys hemophiliac. Assuming that the sex X chromosome is inactive, we did not have the opportunity for women to be hemophilic. By doing the genealogical analysis of these families we will present the thoughts about the role of Bar's body when it comes to type A hemophilia. For these cases of hemophiliacs laboratory, biochemical and genetic analyzes have been done to observe the level of penetration and expressiveness of factor VIII. We will present through the genetic tree the origin or genealogy of the gene for this disease. Based on biochemical and genetic analysis using PCR, we will present the level of factor I, IX, XI, aTTP, vWF- Von Willebrandov factor, locus Xq28, genotype ccddee, fibrinogen, blood group, rhesus factor in hemophiliacs included in this study.