A case study exploring the impact on family life of two genetic conditions – severe haemophilia A and sickle cell disease

Phillott, Anica

A case study exploring the impact on family life of two genetic conditions – severe haemophilia A and sickle cell disease

The Journal of Haemophilia Practice

Volume 5 (2018): Issue 1 (April 2018)

By:

Anica Phillott

Open Access

|Dec 2018

Figures & Tables

Image: Sickle cell disease (SCD) is the most common disorder arising from a single gene mutation, and requires intensive management to retain quality of life and minimise long-term complications. The impact of SCD and haemophilia together has significant implications for lifelong treatment burden© Shutterstock

Treatment of sickle cell disease [1,2]

PREVENTING INFECTION	• Daily penicillin V until at least five years old • Pneumococcal vaccination every five years from age two
ANALGESIA	• NSAIDs • Opioids
BLOOD TRANSFUSION	• Primary/secondary prevention of stroke every three to six weeks indefinitely • Acute treatment of anaemia • Preoperative transfusion
HYDROXYUREA	• Prevention of acute complications • Primary stroke prevention • Indefinitely

Summary of Ade’s treatment at age 10 (see text for details)

SEVERE HAEMOPHILIA A	FVIII prophylaxis 30 IU/kg (1250 units) on alternate days
SICKLE CELL DISEASE	Chronic monthly blood transfusions Penicillin V 250 mg twice daily Folic acid 5 mg/day Deferiprone 360mg three times daily Participating in a clinical trial comparing deferiprone versus desferrioxamine for the treatment of transfusional iron overload

Published case reports of patients with both sickle cell disease and haemophilia

AGE AT DIAGNOSIS / REPORT	DIAGNOSES AND TREATMENT	HISTORY
6–11 ^[5] (3 patients)	Sickle cell trait* Haemophilia A	Bleed events, predominantly haemarthrosis, muscle haematomas, epistaxis, gum bleeds, gastrointestinal haemorrhage and haematuria Bleeding pattern similar to patients with haemophilia A only, but mean annual bleeding episodes significantly lower in those with sickle cell trait (31 +/- 5 vs 45 +/- 7; p=0.033)
30 ^[6]	Sickle cell anaemia Haemophilia A (FVIII 28%)	Excessive bleeding following minor trauma in two maternal uncles Profuse bleeding after tooth extraction led to SCD diagnosis and internal haemorrhage after road traffic accident (1977) Two traumatic haematomas and a dental extraction treated with cryoprecipitate (1977–1986) Haematoma after blunt trauma treated with desmopressin (1986) Red cell transfusions for priapism (1989 and 1990)
15 ^[7]	Sickle cell anaemia Haemophilia B (FVIII 51 IU/ ml, Factor IX 12%) Hepatitis B +ve & C +ve Prophylaxis with recombinant Factor IX since age 9; 3–5 infusions/ year for bleeds	Ten admissions before age two and five admissions in last 13 years for vasculo-occlusive crises and febrile illness Recurrent haemarthroses and mucosal bleeds due to active lifestyle
19 ^[8]	Sickle cell disease/beta- thalassaemia Haemophilia A (FVIII <1%)	Father had beta-thalassemia trait, mother had sickle cell trait, sister was a beta-thalassemia carrier. No history of bleeding disorders SCD diagnosed when admitted with abdominal pain Presented five months later after bleeding for six days post-dental extraction; treated with tranexamic acid and fresh frozen plasma
1.0, 2.5 ^[9]	Sickle cell disease Haemophilia A (FVIII <1%) (treatment not described)	No family history of sickle cell anaemia, but both disorders inherited from the mother Presented with post-circumcision bleeding No history of bleeding events