Haemophilia in Ghana: Case report from Komfo Anokye Teaching Hospital
Conflict of Interest: None declared
Summary
Haemophilia A is an inherited disorder of bleeding due to deficiency of factor VIII. Haemophilia
B is a clinically indistinguishable disorder due to deficiency of factor IX. Haemophilia presents
with prolonged bleeding after trauma or surgery or with arthropathy. In symptomatic patients
with requisite family history, specific factor assay is necessary to confirm the diagnosis.
Treatment is with factor replacement. Where this is not available whole blood transfusions can
be done.
Keywords: Haemophilia, Factor VIII, Arthopathy, Ghana
Introduction
The three most common bleeding disorders are Haemophilia A, Haemophilia B, and von
Willebrand disease1,2,5. Haemophila A is an X-linked congenital deficiency of factor VIII.
Haemophilia B is a clinically indistinguishable disorder due to deficiency of factor IX2,5 and
diagnosis must be confirmed by specific factor assay. Patients with Haemophilia may be
classified according to severity of their disease as mild, moderate, or severe2,5,6. We report two
patients with Haemophilia in a family.
Case report
BA is a 12 month old boy who was referred to the Haematology clinic at the Komfo Anokye
Teaching Hospital, Ghana, for investigation of ‘facial swelling’ after a fall. Prior to the fall, the
mother had noticed recurrent swelling of the knees when BA began crawling. This had led to
swollen, deformed knees. Two (2) of BA’s siblings had died after circumcision for prolonged
bleeding. The last sibling IA was not circumcised.
Examination revealed a traumatized kid with a frontal haematoma. It was fluctuant but not
tender. He was pale. Both knees were swollen with haemathrosis. The elbows, ankles, shoulders,
and wrists were normal.
Laboratory investigations
BA’s haemoglobin was 7.8g/dL with a platelet count of 210 x109/L. WBC count was 6.5
x109/L. Whole blood clot time was >20 minutes. Other results were as follows:
Prothrombin time (PT)
Activated partial thromboplastin time (APTT)
11s (11-15s)
113s (33-47s)
Factor IX cα
47IU/dl (50-150)
Factor VIII cα
< 1 IU/dl (50-150)
The last sibling, IA’s results were
Factor IX cα
53IU/dl (50-150)
Factor VIII cα
< 1 IU/dl (50-150)
The mother (AN) of BA and IA was also screened with the following results:
Prothrombin time (PT)
Activated partial thromboplastin time (APTT)
Thrombin time (TT)
13s (11-15s)
52s (33-47s)
9s (11-15s)
Factor IX cα
70 IU/dl (50-150)
Corrected APTT
40s
APTT normal control
35s
Factor VIII cα
39 IU/dl (50-150)
The mother, AN, was diagnosed as Haemophilia A carrier.
For BA, a diagnosis of Haemophilia A was made and he was treated with whole blood
transfusion as factor replacement was not available. The joints were rested and ice packs applied.
He was put on acetaminophen syrup and the physiotherapist was consulted for further
management. The facial hematoma resolved after 5 days and BA was discharged for follow up at
the haematology clinic.
Discussion
Haemophilia is diagnosed either because of a known family history (which is absent in a third of
haemophiliacs) or after presentation with bleeding5. It is inherited as an X linked recessive
disorder. Because of the pattern of inheritance, females rarely have severe haemophilia. This
may however occur if there is extreme lyonisation, Turner’s syndrome (XO), or carriage of a
mutation by both parents (father with haemophilia and mother a carrier)8. One in 10,000 males is
born with deficiency or dysfunction of the factor VIII molecule2.
Most children are free of symptoms until they begin to crawl or walk. By age 4 years, most
severe haemophiliacs would have experienced their first bleed into a joint, but many bleed from
other sites before this age7. Moderate haemophilia is usually diagnosed by age 5 years but mild
haemophilia may be diagnosed much later in life after trauma or surgery. The factor VIII level
does not change significantly with age.
Haemophilia A is characterized by bleeding into soft tissues, muscles, and weight bearing joints.
They can also develop large calcified masses of blood and inflammatory tissue that can be
mistaken for cancers (pseudotumor syndrome) 2,3,4. BA’s facial haematoma resolved after 5 days.
Symptomatic patients usually have factor VIII level <5% with a close correlation between the
clinical severity of haemophilia and plasma factor VIII levels6. Patients with <1% factor VIII
activity have severe disease; they bleed frequently even without obvious trauma. Patients with
levels of 1 to 5% have moderate disease with less frequent episodes of bleeding. Those with
levels >5% have mild disease with infrequent bleeding that is usually secondary to trauma.
Advances in the treatment of haemophilia include the introduction of prophylaxis, continuous
infusion, and pharmacologic treatment with Desmopressin11. Bleeding in patients with mild
haemophilia may respond to Desmopressin (DDAVP), an analogue of anti diuretic hormone.
Intravenous administration is preferred as cover for surgery or in cases of severe bleeds. There is
an effective nasal spray which can be utilized for home therapy in mild or moderate bleedings.9,11
In severe haemophiliacs, the main goal of treatment is to prevent chronic haemophiliac
arthropathy due repeated bleeds12,13. Patients with severe haemophilia A require replacement of
factor VIII via intravenous infusions. Such patients can either be given prophylactic treatment to
prevent bleeding or be managed with on-demand therapy to treat specific bleeding episodes. In
severe haemophilia, prophylaxis, i.e., the infusion of factor concentrate replacement treatment in
order to prevent bleeding episodes, is the first choice treatment recommended by the World
Health Organisation (WHO) and World Haemophilia Federation12,14. This recommendation is
difficult to implement in our setting not only because factor concentrates are not available but
also due to the late presentation of our patients. The main objective of prophylactic replacement
treatment is to minimize the number of joint bleeds since an early age by converting the severe
form of haemophilia to a milder form. Preventing or reducing the clinical impact of
haemophiliac arthropathy by prophylaxis means enabling normal life and psychosocial
development for haemophiliac children including the possibility of physical activities and regular
school attendance. Severe haemophiliacs on prophylaxis and their families have a better quality
of life than those on-demand therapy14,15.
Treating patients with severe haemophilia carries the risk of an immune response against factor
VIII (FVIII). Inhibitor formation is a major problem. The majority of inhibitors develop in
previously untreated patients with haemophilia A at an early age. We must be aware of the fact
that any patient is susceptible to develop an anti-FVIII response at any time during therapy. The
management of FVIII inhibitor patients can be broadly divided into treatment of an acute bleed
and suppression of inhibitors.
BA at the age of 12 months showed evidence of chronic arthropathy. This is the result of a
combination of factors. Diagnosing haemophilia is not done routinely except in specialized
laboratories. This is out of reach to many clinicians who see patients with bleeding disorders.
When a diagnosis is confirmed, factor VIII is not available in hospitals and pharmacies in Ghana.
As a result, patients with active bleeds are managed with blood transfusion instead of factor
replacement.
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