Sickle Cell Disease

Key points

  • Sickle cell disease is the most common genetic disease in the UK and is associated with significant mortality and morbidity during pregnancy
  • There are no prospective national studies to estimate the incidence or outcomes of pregnancy in patients with Sickle Cell Disease.
  • This study will investigate the incidence, management and outcomes for mother and infant in pregnancies where the mother has Sickle Cell Disease.

Surveillance Period

February 2010 – February 2011

Background

Sickle cell disease (SCD) is the most common genetic disorder worldwide and in the UK, with 12-15,000 affected individuals in the UK. SCD is a multi-organ disorder characterised by intermittent episodes of severe pain which may require hospital admission for treatment, and other complications including chest disease, pulmonary hypertension, stroke, retinopathy, renal failure, avascular necrosis and leg ulcers.

There is some historical data, most from outside the UK, showing a high incidence of maternal and fetal complications in SCD, but no contemporary or recent prospective data from the UK. The numbers of deliveries in women with SCD has increased markedly over recent years, from 25-30 deliveries across the whole UKin the 1970s, to the current situation of approximately 150-250 deliveries per year. There is also a lack of consensus about the best management strategies for optimum care of these women, although it is clear that good committed obstetric care is of vital importance. SCD has great geographical variability across the UK, with the greatest numbers of deliveries occurring in London or other major conurbations such as Manchester and Birmingham, but with small numbers of deliveries distributed across the UK. This lack of knowledge about incidence of pregnancy, makes it difficult to plan services, to plan optimal care, or in the long term to plan further trials into best practice. This study plans to collect data about incidence across the UK and describe current management practice.

Early reports on the outcome of pregnancy in homozygous SCD showed an almost universal adverse outcome for mother and child, and although more recent studies show a significant improvement, maternal and fetal morbidity and mortality are still associated with this condition. An early study from the UKshowed an increased in perinatal mortality, pre-eclampsia, premature delivery and low birth weight[1]. Cohort studies from the US and from Jamaica, looking at pregnancy outcome in 445 pregnancies and 94 pregnancies in women with SCD, have shown similar results[2][3].  A further study by the Jamaican group in women with HbSC looked at 95 pregnancies in 43 patients with HbSC[4]. Outcome was improved when compared to women with Hb SS, but as small numbers of women with HbSC do have serious complications in pregnancy, women with HbSC and other compound heterozygotes of sickle cell disease will be included in this survey.

Objectives

  • To use the UK Obstetric Surveillance System to describe the incidence, management and outcome of pregnancies in women with sickle cell disease in the UK.

Research questions

  • What is the current incidence of pregnancy in women with sickle cell disease in the UK?
  • What management strategies are used for in women with sickle cell disease during pregnancy; in particular what is the incidence of blood transfusion and anticoagulation therapy?
  • What complications are seen during pregnancy in women with sickle cell disease compared to matched controls with out sickle cell disease?
  • What are the outcomes for mother and infant compared to matched controls?

Case definition

Any woman in the UK identified as having sickle cell disease using the following definition:

Sickle cell disease including

homozygous sickle cell disease and

compound heterozygous conditions of haemoglobin S with haemoglobin C, D, E, O-Arab or Beta thalassaemia.

Pregnancies in women with sickle cell trait are excluded.

Funding

Guy’s and St Thomas’ Charity

Ethics committee approval

The study has been approved by the London MREC (study ref 09/H0718/63).

Investigators

Jo Howard, Eugene Oteng-Ntim, Guy’s and St Thomas’ NHS Foundation Trust

Download the Data Collection Form (DCF)

UKOSS Sickle Cell Disease Form

References

  1. ^ Tuck SM, Studd JW, White JM. Pregnancy in sickle cell disease in the UK (1983) British Journal Obstetrics and Gynaecology. 90 (2): 112-7.
  2. ^ Smith JA, Espeland M, Bellevue R, Bonds D, Brown AK, Koshy M. Pregnancy in Sickle Cell Disease: Experience of the Cooperative Study of Sickle Cell Disease (1996). Obstetrics and Gynaecology. 87 (2) 199- 204.
  3. ^ Serjeant GR, Look Loy L, Crowther M, Hambleton I, Thame M. Outcome of pregnancy in homozygous sickle cell disease. (2004) Obstetrics and Gynaecology. 103 (6); 1278-1285.
  4. ^ Serjeant GR, Hambleton I, Thame M. Fecundity and pregnancy outcome in a cohort with sickle cell-haemoglobin C disease followed from birth (2005). British Journal of Obstetrics and Gynaecology.112; 1308-131.