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A Review on Hemophilia it’s diagnostic tests and the application of Extending Half Life Products

Journal of Research in Medical and Dental Science
eISSN No. 2347-2367 pISSN No. 2347-2545

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Research - (2022) Future Prospects of clinical and Medical Research

A Review on Hemophilia it’s diagnostic tests and the application of Extending Half Life Products

Manish Kumar Gupta1*, Krishna Gopal2, Anil Ahuja3, Sudheesh Shukla4 and Ajay Bilandi5

*Correspondence: Manish Kumar Gupta, Department of Pharmaceutical Chemistry, SGT University, Gurugram Haryana, India, Email:

Author info »

Abstract

Both haemophilia A as well as haemophilia B were X-linked congenital disorders which leads to bleeding owing to deϔ‹c‹ec› of coagulation factors in blood notably factor VIII (FVIII) and IX (FIX), respectively. Replacement treatment is chosen care option for those persons suffering from haemophilia. Prophylactic elimination of coagulation factor is the treatment of choice for patients with chronic condition; which have been proved to considerably reduce arthropathy, lowering number of bleeds, as well as boosting the patients' life quality. Normal recombinant factor prophylaxis needs with at minimum 2 (FIX) to 3 (FVIII) intravenous injections per week. Synthetic FVIII and FIX products with a longer half-life are being developed or have just been authorised. These products had documented average half-life increase of around 1.5 to 1.8 times than that compared to regular FVIII products as well as three to ϔ‹e times that of normal FIX products, thus, it possibly answers the demands of patients who are being treated by standard factor concentrations.

Keywords

Clotting factor, Excessive bleeding, Prophylaxis, Trauma

Introduction

Mechanism of blood clotting

The process of blood clotting can be defined as a process of producing a clot in order to inhibit bleeding [1]. It is a complex process. The body depends on collaboration of 3

processes so as to inhibit bleeding:

First two processes are involved in primary hemostasis:

• Vasoconstriction: It is defined as body’s first response to the injury caused in vascular wall. Whenever there is an injury, constriction of vessel walls occurs which leads to the decreased flow of blood towards the site of injury.

• Platelet plug: Just at site of damage, platelets collect. They act like a “plug” by acting in unison. In platelets, production of fibrin clot, termed as secondary hemostasis, is initiated [2].

Secondary hemostasis: There is no way for platelets to shield vessel wall from injury. When you have a blood clot, it should form at the wound site. The production of clot depends on different elements known as clotting factors. These elements are denoted from the roman numerals I till XIII. The clotting cascade occurs as these mechanisms interact with one another. When fibrinogen is cleaved into fibrin and a soluble solids, and fibrin, a – anti protein, this leads in a cascading effect Fibrin proteins produce a clot by linking together. Two separate yet interrelated mechanisms are used in the coagulation sequence the intrinsically and extrinsically routes [3].

Extrinsic pathway: External damage activates the extrinsic pathway, causing blood to leak from a vascular system. This pathway performs quicker function than that of intrinsic pathway. It functions with the help of factor VII.

Intrinsic pathway: The intrinsic cascade is triggered via damage within vascular system and may be triggered with the exposed collagen, platelets, hormones or endothelial cells. Since this route is gentler than that of extrinsic route, but this pathway is more significant. Factors XII, XI, IX, and VIII are involved [4].

Common pathway: A general pathway is carried out in which all the pathways combine and complete the clot formation pathway. Factors I, II, V, and X are all included in the general pathway. Factor IX (F-IX) and Factor IX (FIX) , they are both X-linked hereditary bleeding disorders, which are associated with germline abnormalities in F-IX and F-VIII genes, respectively. Factor plasma concentration of 1% or less, 2–5%, and 6–40% may both engage in the internal method of coagulation factors, and afflicted people may have disease that is very mild, moderate, or severe, depending on the amount of factor present. One in every five thousand males is born having haemophilia A, whereas one in every thirty thousand males is born having haemophilia B. Hemorrhage in people with severe hereditary hemorrhagic telangiectasia is rather prevalent. Staphylococcus infections may lead to joint, nerve, or soft tissue haemorrhages for no apparent cause. Deadly hemorrhage outbreaks, like cerebral haemorrhages, may also occur [5]. Factor insufficiency seldom causes unintentional haemorrhage, but trauma or surgery-related haemorrhage is more likely to occur.

A variant of haemophilia called haemophilia the consequences from deficiency of the coagulation factor VIII; whereas another kind called haemophilia B is related to a deficiency of the clotting factors IX. They are often acquired via an X chromosome through one parent. Clotting antibodies may arise in early development because a novel mutation cannot be detected, or they may develop later in life due to haemophilia due to an increase in clotting antibodies. Other manifestations include low factor XI-deficient haemophilia C, and low factor V-deficient parahemophilia. Hemophilia may lead to tumours, autoimmune disorders, and pregnancy complications.

Discussion

Genes Involved in Hemophilia Discussion

The F9 as well as F8 alleles both are present on X chromosome, positioned towards the end of a very long arm (Xq28 for F8 and Xq27 for F9).

The F8 gene is very massive (about 180 kb), with a very complicated structure (twenty six exons), while the gene F9 being much smaller (of about thirty four kb), and has a more straightforward structure (only eight exons). Hundreds of people who have the haemophilia mutations have been discovered. The overwhelming number of mutations revealed underscores the genetic complexity of haemophilia.

Deletions, point mutations, rearrangements/ inversions and insertions are found in the F9 and F8 have all been linked to haemophilia A and B in people who exhibitthese mutations [8]. While these mutations are somewhat prevalent in HA and HB, the frequency varies. in particular, the gross genetic flaws contribute to around 7% of HB cases, but HA has half of its severe instances resulting from rearrangements in the genes, wherein inversion of the 22nd intron is the most common.

References

Author Info

Manish Kumar Gupta1*, Krishna Gopal2, Anil Ahuja3, Sudheesh Shukla4 and Ajay Bilandi5

1Department of Pharmaceutical Chemistry, SGT University, Gurugram Haryana, India
2Department Of General Medicine, Teerthanker Mahaveer University, Moradabad, Uttar Pradesh, India
3Department of Pharmacy, Sanskriti University, Mathura, Uttar Pradesh, India
4School of Biomedical Engineering, Shobhit Institute of Engineering and Technology (Deemed to be Univ, India
5Department of Pharmaceutical Sciences, RIMT University, Mandi Gobindgarh, Punjab, India
 

Received: 02-May-2022, Manuscript No. JRMDS-22-58450; , Pre QC No. JRMDS-22-58450 (PQ); Editor assigned: 04-May-2022, Pre QC No. JRMDS-22-58450 (PQ); Reviewed: 14-May-2022, QC No. JRMDS-22-58450; Revised: 17-May-2022, Manuscript No. JRMDS-22-58450(R); Published: 25-Jun-2022

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