Accesso libero

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

Anica Phillott

Anica Phillott

Paediatric Haemophilia Nurse Manager and Specialist, Evelina London Children's Hospital, Guy’s and St Thomas’ NHS Foundation TrustLondon, UK
Cerca questo autore su
Sciendo|Google Scholar
Phillott, Anica
  
21 dic 2018
A case study exploring the impact on family life of two genetic conditions – severe haemophilia A and sickle cell disease's Cover Image
INFORMAZIONI SU QUESTO ARTICOLO
Articolo precedente
Articolo Successivo
Cita
Scarica la copertina
Categoria dell'articolo: Case Study
Pubblicato online: 21 dic 2018
Pagine: 138 - 142
DOI: https://doi.org/10.17225/jhp00129
Parole chiave
© 2018 Anica Phillott, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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
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 AFVIII prophylaxis 30 IU/kg (1250 units) on alternate days
SICKLE CELL DISEASEChronic 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 / REPORTDIAGNOSES AND TREATMENTHISTORY
6–11 [5] (3 patients)Sickle cell trait* Haemophilia ABleed 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 bleedsTen 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
Lingua:
Inglese
Frequenza di pubblicazione:
1 volte all'anno
Argomenti della rivista:
Medicina, Scienze medicali di base, Scienze medicali di base, altro, Medicina clinica, Medicina clinica, altro, Farmacia, Farmacologia
Feed RSS della rivista