She could not believe this was happening all over again and she knew she could not survive it this time.
Salamatu (not her real name) had experienced too much loss already and the thought of losing her only son sent shivers down her spine.
This mother had lost two children already, the first one at birth and the second on the eighth day of life from prolonged post-circumcision bleeding.
Kofi, the third son has hemophilia just like the first two and is lying limbless on the emergency table at the pediatric unit.
He was seriously battling for his life after a minor fall leading to a massive head bleed.
This has become the narrative of people living with Hemophilia in this era: a disease that literally means “loves to bleed.”
Hemophilia is a bleeding disorder where an individual’s blood does not clot properly due to insufficient blood-clotting proteins (clotting factor) that help stop bleeding.
Affected individuals can bleed spontaneously or bleed excessively following an injury or surgery. But this bleeding disorder is mostly inherited.
There are two main types of hemophilia: hemophilia A and hemophilia B. Affected persons have low levels of clotting factors VIII (8) and X (9) respectively.
The disease is caused by a mutation in a gene that sits on the X chromosome and males have one X and one Y chromosome (XY) while females have two X chromosomes (XX).
Hence males are affected when they inherit a chromosome from their mothers. The disease consequently affects more males than females, as males have only one X chromosome.
A female carrying the defect on one of her X chromosomes might not be affected by it. A carrier mother has a 50 per cent chance of passing the faulty X-chromosome to her daughter, while an affected father will always pass on the affected gene to his daughters.
However, a son cannot inherit the defective gene from his father. Hemophilia, according to medicine, affects all races and ethnicities with an occurrence of one in every 10,000 births.
Symptoms of the disorder
Patients with this disease commonly present with bleedings in joints and muscles causing swelling, pain and tightness.
They have easy bruising, nose bleeds, gum bleeds and bleeds that are difficult to control after losing a tooth and they may even present with blood in their stools and urine, post-vaccination bleeds, vaccination site swelling and life-threatening bleeding in the head, chest or abdomen.
The earliest symptom that could point to this diagnosis usually occurs after birth; bleeding from the cord, scalp swelling and most importantly, prolonged bleeding after circumcision.
Post-circumcision bleeding has been the bane of most marriages as couples lose their sons from prolonged bleeding after the procedure. Without treatment, patients end up with disabling joint arthroplasty which directly affects their quality of life.
According to Dr. Yaa Gyamfuah Oppong-Mensah, a Pediatrician at the Komfo Anokye Teaching Hospital, scientists are working progressively to find a permanent cure for hemophilia or the bleeding disorder.
“Studies in both animals and humans have provided evidence that a permanent cure for hemophilia is within reach. Gene therapy which has a curative intent is currently under development and trials in the Western world,” Dr. Oppong-Mensah said.
That notwithstanding, she said the current standard of care for hemophilia in the country was to control or prevent bleeding episodes through factor replacement therapy, given by regular intravenous (IV) infusions.
Dr. Opppng-Mensah said the KATH and the Korle-Bu Teaching Hospitals offered comprehensive care to patients with bleeding disorders to improve their quality of life.
She said the earliest symptoms usually occurred after birth; bleeding from the cord, scalp swelling and most importantly prolonged bleeding after circumcision.
“An individual’s blood does not clot properly due to insufficient blood-clotting proteins (clotting factor) that help stop bleeding”, Dr. Oppong-Mensah, also a member of the Ghana Hemophilia Society stated.
World Hemophilia Day (WHD).
The WHD is an international observance day held annually on April 17 and instituted by the World Federation of Hemophilia (WFH) and the 2023 celebration is on the theme “access for all: prevention of bleeds as the global standard of care”.
Building on last year’s WHD theme, the call to action for the community in 2023 is to come together and advocate with local policymakers and governments for improved access to treatment and care with an emphasis on better control and prevention of bleeds for all
people with bleeding disorders (PWBDs).
This means the implementation of home-based treatment as well as a prophylactic treatment to help those individuals have a better quality of life.
Ghana hemophilia Society
Mr Martin Boakye, the Founder, Ghana Hemophilia Society, a non-profit organisation said the society was formed in 2009 and worked to educate and train health workers as well as advocate the needs and rights of people living with hemophilia.
Currently, the society has, in collaboration with the treatment centres, about 500 hemophilia patients in their database who are being supported in treatment and care, he added.
“The society through its enviable work has gained recognition and membership from the World Federation of Hemophilia, Canada,” Mr Boakye stated.
Salamatu’s prayers have been answered as her son Kofi is currently living his best life on the novel therapy, emicizumab.
Kofi may have escaped death, but the journey was a daunting one and one must go through that.
As said by the current WFH president, Cesar Garrido “there is nothing more moving for someone in our community to hear about than a child with a bleeding disorder playing with friends, going to school and simply enjoying a better quality of life because they have access to proper treatment.
In fact, controlling and preventing bleeds is really critical to a better quality of life.