About | HeinOnline Law Journal Library | HeinOnline Law Journal Library | HeinOnline
LOG IN
LOG IN

29 Med. Sci. & L. 1 (1989)

handle is hein.journals/mdsclw29 and id is 1 raw text is: Med. Sci. Law (1989) Vol. 29, No. 1 Printed in Great Britain Editorial C. M. JAMES, G. C. JENKINS AND A. D. STEPHENS SICKLE CELL TRAIT Sickle cell trait is one of the haemoglobin- opathies, a group of inherited defects in the quantity and quality of haemoglobin synthesis. They are found predominantly in people who are not of northern European extraction, and patho- logists will increasingly encounter these condi- tions at post mortem. Their influence on the cause of death will become relevant in forensic cases. Sickle cell trait occurs when an abnormal haemoglobin gene is inherited from one parent and a normal haemoglobin gene from the other parent. This results in a mixture of normal haemoglobin (HbA) and sickle haemoglobin (HbS) being produced. Sickle haemoglobin is a variant of haemoglobin formed by an amino acid substitution in the beta chain. This disrupts the structure of the haemoglobin molecule so as to cause crystallization when the red cell is stressed by hypoxia, acidosis, high oncotic pressure or a combination of the three. This crystallization, which is initially reversible, causes the character- istic sickling of the red cells. Sickle haemoglobin is found in Equatorial Africa, India, Southern Turkey, Saudi Arabia, Sicily, Cyprus and Greece. It is also found in areas to which these people have emigrated, notably the West Indies, the United States and Great Britain. The geographical incidence of sickle cell trait in the UK varies widely and it is becoming increasingly common in our major cities. Its incidence in the UK has been reported at 3.3% of blacks (Brozcovic and Anionwu, 1984). A screening programme in Hackney has shown an incidence of over 12% for sickle cell trait in the child-bearing population. In the USA the incidence has been reported in a number of studies and is about 8% of blacks and 0.08% of non-blacks (Myerson et al, 1959). Sickle cell anaemia (HbSS) is the homozygous state for haemoglobin S and people with this condition are liable to considerable morbidity and mortality. Sickle cell disease is the name given to a group of inherited conditions having similar clinical consequences to sickle cell anaemia, but which are due to different geno- types such as SS, SC, SD, SO, S/Beta thalas- saemia, S/Hereditary Persistence of Foetal haemoglobin (S/HPFH). The most common question asked of a forensic pathologist in these cases must be whether the possession of sickle cell trait contributed to death. Defence counsel may attempt to show that the haemoglobinopathy was, at least partially, responsible for the death of, for instance, the victim of an assault. There has been much con- flict in the literature on this point. Undoubtedly some of the early reports sug- gesting a strong association between death and sickle cell trait were based upon patients who may well have had the much more serious con- ditions of sickle cell disease - sickle C disease, sickle D disease, sickle 0 disease or sickle-beta thalassaemia - the exact diagnosis often being made on empirical grounds before diagnostic haemoglobin electrophoresis was available. Epidemiological surveys have revealed no re- duction in the incidence of sickle cell trait with increasing age, suggesting that there is no excess mortality associated with the condition. In addi- tion surveys of post mortems in those with sickle cell trait have shown no difference in the mean age of death between those with sickle cell trait and normal controls. A twelve-year longitudinal survey of 119 Jamaican adults with sickle cell trait and 856 control subjects showed no difference in mortality rates between the two groups (Ashcroft and Desai, 1976). A study of 120 autopsies in those with sickle cell trait compared with 1,104 normals showed no difference in the mean age of death between the two groups (McCormick and I

What Is HeinOnline?

HeinOnline is a subscription-based resource containing thousands of academic and legal journals from inception; complete coverage of government documents such as U.S. Statutes at Large, U.S. Code, Federal Register, Code of Federal Regulations, U.S. Reports, and much more. Documents are image-based, fully searchable PDFs with the authority of print combined with the accessibility of a user-friendly and powerful database. For more information, request a quote or trial for your organization below.



Short-term subscription options include 24 hours, 48 hours, or 1 week to HeinOnline.

Purchase Access

Contact us for annual subscription options:

Contact Us

Already a HeinOnline Subscriber?

Log In

profiles profiles most