Relevance: G.S paper:III. Science and Technology- developments and their applications and effects in everyday life.
Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery.
Blood contains many proteins called clotting factors that can help to stop bleeding. People with hemophilia have low levels of either factor VIII (8) or factor IX (9).
The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems.
In rare cases, a person can develop hemophilia later in life. The majority of cases involve middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy. This condition often resolves with appropriate treatment.
Causes
Boys and girls
The sex of an individual is determined by a pair of “sex chromosomes” (a chromosome is a DNA molecule that contains genetic information).
Females are identified with an XX pair of sex chromosomes, and males with an XY pair.
When an X chromosome from the mother pairs up with the father’s X chromosome, the offspring is XX (female); when an X chromosome from the mother pairs up with the father’s Y chromosome, the offspring in XY (male).
Haemophilia is caused by a defect in the X chromosome.
If a girl is born with one defective X chromosome, her other X chromosome can compensate for it. In such a case, she is a carrier of haemophilia but will not suffer from the condition herself. Only if both her X chromosomes are defective will she suffer from haemophilia herself.
On the other hand, if a boy is born with a defective X chromosome, he does not have the second X chromosome to compensate for it, and will suffer from haemophilia. That is the reason haemophilia is more common among men.
Haemophilia in India:
It is an uncommon issue around the world — one sort, considered Hemophilia A, happens in around 1 of every 5,000 births, while Hemophilia B is even rarer at around 1 in around 20,000 births. An immense number of cases, in any case, are accepted to go unreported, especially in India. As indicated by the World Federation of Hemophilia’s Annual Global Survey 2017, discharged in October 2018, there were over 1.96 lakh people living with hemophilia over the world in 2017. In the nation savvy information, India rises with the most elevated check at about 19,000. 80% cases go unregistered, with the goal that the real check is near 2 lakh.
Diagnosis
India is fast progressing in the field of hemophilia treatment but the core problem is of diagnosis.
Tests for diagnosing Hemophilia are not expensive and can be done at district hospitals. There are two types of tests – Activated Partial Thromboplastin Time (APTT) Test and Prothrombin Time (PT) Test. The PT and APTT screenings are blood tests that show if the blood is clotting properly. Currently the only challenge is about screening which has a huge gap in the rural parts of India.
Management
- The turmoil can be overseen by imbuement of thickening variable, utilizing meds to advance clumps and recuperating, abstaining from dying, practicing routinely, dodging physical games, keeping up great dental cleanliness and following safe practices.
- Medicinal administration of the condition incorporates injecting blood thickening variable packs into the body to anticipate dying. This is called prophylactic treatment and is controlled based on the patient’s weight.
- It likewise involves offering infusions to the patient at whatever point they drain, additionally approached interest prophylactic treatment. The viability of the drug, contained in vials, is estimated in units.
- The key to leading a better life with hemophilia is early detection and condition management and the responsibility for that lies with the parents. There is no cure for haemophilia, only management.
NOTE:
‘Royal disease’: Britain’s Queen Victoria (1819-1901) is the World’s most widely known carrier of haemophilia.
Von Willebrand disease (vWD) is another genetic bleeding disorder in which patients are prone to frequent bleeding such as nosebleeds, bleeding gums, and excessive menstrual periods.