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Haemophilia: Debilitating bleeding disorder

CHARITY Pikiti with Alain Weill, President of the World Federation of Haemophilia (WFH), at the Federation’s 2014 General Assembly in Melbourne, Australia after Zambia’s admission to the WFH in May.

By NKOLE NKOLE
CHARITY Pikiti thought she was unlucky on the day a doctor disclosed to her that her son was suffering from sickle cell anaemia. He first child had an attack at only six months old but was only diagnosed with the condition at nine months.
She wondered just how she would cope raising her son with such a sensitive condition. The diagnosis shattered her but when Charity and her son first got admitted at the University Teaching Hospital (UTH) ward, she also realised that she needed to count her blessings.
Charity discovered that despite her son being a sickle cell patient, there were more severe cases being treated inside the UTH ward such as bleeding disorders and childhood cancers.
One of those most debilitating bleeding disorders she came across was haemophilia that not only causes emotional stress to the sufferer and family of the sufferer but can be a huge financial burden as well.
All the parents that found themselves in the ward were experiencing collective pain and emotional pressure and only beginning to learn how to handle it.
Charity decided that starting a foundation where all of their challenges could be collectively addressed was one of the best ways to fight the different conditions being treated in the ward.
“I said, my child is better so let me do something for the other kids because unlike sickle cell anaemia which is widely known in Zambia, haemophilia isn’t,” Charity said.
Charity, is today chairperson of the Zambia Childhood Cancer Foundation that was started in June 2012.
Along with parents whose children suffer bleeding disorders or cancers, a united front has since been formed through the foundation.
A separate foundation called the Haemophilia Foundation of Zambia was also registered to specifically tackle haemophilia.
“It is a disease still relatively unknown in Zambia and also quite uncommon, yet a lot of people are affected by it.
“We have a lot of people that are dying silently in Zambia without being diagnosed,” Charity explained.
The World Federation of Haemophilia (WFH) has since accredited the Haemophilia Foundation of Zambia as a member organisation to help with support provision to those living with the condition in Zambia.
Support comes through the donation of the drug Factor VIII, which is a very expensive drug used in the treatment of haemophilia. Charity says the challenge lies with leading everyone that is living with haemophilia to the foundation so they can be helped.
Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-haemophilic factor (AHF). In humans, factor VIII is encoded by the F8 gene.
It is produced in liver sinusoidal cells and endothelial cells outside of the liver throughout the body. This protein circulates in the bloodstream in an inactive form, bound to another molecule called von Willebrand factor, until an injury that damages blood vessels occurs.
Charity and her colleagues go out in search of haemophilia sufferers within townships and different rural areas in Zambia.
“We are trying to encourage everyone with a bleeding disorder to come out so that we can help them because we know how to readily access the drug Factor VIII,” Charity said.
Also a challenge faced by the foundation is that some doctors in rural areas are unaware that there are people in rural districts battling this condition.
Haemophilia is not one disease but rather one of a group of inherited bleeding disorders that cause abnormal or exaggerated bleeding and poor blood clotting. The term is most commonly used to refer to two specific conditions known as hemophilia A and hemophilia B.
Haemophilia A and B are distinguished by the specific gene that is mutated (altered to become defective) and codes for a defective clotting factor (protein) in each disease. Rarely, hemophilia C is encountered, but its effect on clotting is far less pronounced than A or B.
Haemophilia A and B are inherited in an X-linked recessive genetic pattern and are, therefore, much more common in males. This pattern of inheritance means that a given gene on the X chromosome expresses itself only when there is no normal gene present.
For example, a boy has only one X chromosome, so a boy with hemophilia has the defective gene on his sole X chromosome (and so is said to be hemizygous for haemophilia). Haemophilia is the most common X-linked genetic disease.
Although it is much rarer, a girl can have haemophilia, but she would have to have the defective gene on both of her X chromosomes or have one haemophilia gene plus a lost or defective copy of the second X chromosome that should be carrying the normal genes.
If a girl has one copy of the defective gene on one of her X chromosomes and a normal second X chromosome, she does not have haemophilia but is said to be heterozygous for haemophilia (a carrier). Her male children have a 50 percent chance of inheriting the one mutated X gene and thus has a 50 percent chance of inheriting haemophilia from their carrier mother.
Haemophilia A occurs in about 1 out of every 5000 live male births. Haemoplilia A and B occurs in all racial groups. Haemophilia A is about four times more common than B; B occurs in about 1 out of 20- 34,000 live male births.
It is Charity’s hope that through the foundation, other stakeholders will come on board to help end the silence on haemophilia and raise awareness on the treatment options available in tackling the condition.

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