Hemophilia: Carrier testing and therapy
- 1Department of General Medicine, Institute of Medical Science (IMS), Banaras Hindu University, BHU Varanasi, Uttar Pradesh, India
- 2Centre for Genetic Disorder, Institute of Science Varanasi, Uttar Pradesh, India
Abstract
Hemophilia is an X-linked to recessive bleeding disorder and occurs due to a deficiency of the factor level. Leading disease models for human molecular genetics include hemophilia. For family counseling, it is critical to identify the genetic abnormalities that cause the affected people’s Propensity to bleed and the danger of inhibitors. The percentage of families with a recognized issue has increased along with improvements in carrier screening, and prenatal diagnosis brought about by genetic testing. The field of hemophilia treatment is changing quickly due to the availability of long-acting drug pharmacokinetics, physiotherapy, and the quick progress being made in gene therapy. In this age of advancement, it is essential to comprehend the variables affecting hemostatic, and clinical outcomes as well as therapeutic responses. Advancements: Gene therapy, NGS, and personalized medicine; Challenges: Cost, and accessibility. This review will look at how molecular genetic analysis fits into the hemophilia diagnostic algorithm, and highlight its benefits for clinical practice, especially as Techniques for Measuring FVIII’s [Hemophilia A (HA)] Functional Activity, FVIII’s Chromogenic Method (Ccro), The process entails utilizing the FVIII gene (F8) using the polymerase chain reaction (PCR), and then identify any mutations using various screening methods or DNA sequencing, Linkage Analysis for Factor VIII gene, genetics testing approaches for at high-risk male and female. All ethnic groups in the globe are equally affected by hemophilia. Around 400,000 persons worldwide are thought to have hemophilia, which impacts roughly 1 in 10,000 live births. Between 80% and 85% of people with HA are the majority in the general population. Hemophilia B (HB) affects one in five live male neonates, and HA affects one in 30,000 live male infants. As early diagnosis techniques have improved, affected persons should anticipate a typical life expectancy after treatment regimens.
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BibTeX
@article{hemaliya2026hemophilia,
title = {{Hemophilia: Carrier testing and therapy}},
author = {Chanda Hemaliya and Arun Kumar Singh and Lalit Prashant Meena and Ajeet Kumar and Akhtar Ali},
journal = {Journal of family medicine and primary care},
year = {2026},
month = jul,
doi = {10.4103/jfmpc.jfmpc_1420_25},
url = {https://europepmc.org/article/PMC/PMC13722228},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Hemophilia: Carrier testing and therapy
AU - Chanda Hemaliya
AU - Arun Kumar Singh
AU - Lalit Prashant Meena
AU - Ajeet Kumar
AU - Akhtar Ali
PY - 2026
DA - 2026/07/01
JO - Journal of family medicine and primary care
DO - 10.4103/jfmpc.jfmpc_1420_25
UR - https://europepmc.org/article/PMC/PMC13722228
AB - Hemophilia is an X-linked to recessive bleeding disorder and occurs due to a deficiency of the factor level. Leading disease models for human molecular genetics include hemophilia. For family counseling, it is critical to identify the genetic abnormalities that cause the affected people’s Propensity to bleed and the danger of inhibitors. The percentage of families with a recognized issue has increased along with improvements in carrier screening, and prenatal diagnosis brought about by genetic testing. The field of hemophilia treatment is changing quickly due to the availability of long-acting drug pharmacokinetics, physiotherapy, and the quick progress being made in gene therapy. In this age of advancement, it is essential to comprehend the variables affecting hemostatic, and clinical outcomes as well as therapeutic responses. Advancements: Gene therapy, NGS, and personalized medicine; Challenges: Cost, and accessibility. This review will look at how molecular genetic analysis fits into the hemophilia diagnostic algorithm, and highlight its benefits for clinical practice, especially as Techniques for Measuring FVIII’s [Hemophilia A (HA)] Functional Activity, FVIII’s Chromogenic Method (Ccro), The process entails utilizing the FVIII gene (F8) using the polymerase chain reaction (PCR), and then identify any mutations using various screening methods or DNA sequencing, Linkage Analysis for Factor VIII gene, genetics testing approaches for at high-risk male and female. All ethnic groups in the globe are equally affected by hemophilia. Around 400,000 persons worldwide are thought to have hemophilia, which impacts roughly 1 in 10,000 live births. Between 80% and 85% of people with HA are the majority in the general population. Hemophilia B (HB) affects one in five live male neonates, and HA affects one in 30,000 live male infants. As early diagnosis techniques have improved, affected persons should anticipate a typical life expectancy after treatment regimens.
SN - 2249-4863
SN - 2278-7135
ER -