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Management of individuals with sickle cell disease Sickle cell disease requires specialist consultant haematologist or paediatrician management. Early diagnosis is vital and screening for sickle cell disease is incorporated in the NHS newborn blood spot NBS screening programme in England. Children who are diagnosed with sickle cell disease at birth should be referred for specialist care by 3 months of age. Standards have been developed for appropriate care of children and adults with sickle cell disease.

One potential side effect of undergoing this procedure is infertility. Much of the care required by individuals with sickle cell disease is preventative and supportive care. Families and individuals need specialist support to understand the condition and be proactive in their personal care, to recognise potential problems and try to prevent or minimise the effects of a sickle cell crisis.

Preventative care includes: eating a balanced, healthy diet maintaining a good fluid intake keeping warm in cold conditions complying with recommended immunisations and prophylactic antibiotics administering simple analgesia at the start of a sickling episode seeking urgent medical care when required 6. Thalassaemias Thalassaemias are usually recessively inherited genetic conditions which affect the quantity of haemoglobin produced.

A change occurs in the genetic code responsible for production of either the alpha or beta globin chains that are present in normal haemoglobin A. The 4 main thalassaemia conditions that have clinical significance are: alpha thalassaemia major, which is clinically significant to the fetus and mother haemoglobin H disease alpha thalassaemia 3 gene deletion , which is clinically significant after birth beta thalassaemia major, which is clinically significant after birth beta thalassaemia intermedia, which has variable clinical significance after birth Thalassaemic red blood cells Further details on the clinical impact of thalassaemia conditions is in Appendix 4.

Alpha thalassaemia Normal haemoglobin A has 2 alpha globin chains. The production of these alpha globin chains is controlled by 4 alpha globin genes and 2 genes are inherited from each parent.

In alpha thalassaemia there is either reduced or absent production of alpha globin chains, caused by a defect or mutation in one or more of the alpha globin genes 7. Alpha thalassaemia carrier status cannot be definitively diagnosed by routine laboratory screening methods, due to its complexity.

It must be confirmed by DNA analysis. Below is a graphic illustration of the alpha globin chains 2 , and the full complement of alpha globin genes, 4 that individuals with normal Hb A inherit. Structure of normal haemoglobin A alpha globin chains 7. Although this can affect alpha globin chain production, there is usually minimal change to the haemoglobin level. Alpha plus thalassaemia carrier status is not clinically significant but can be confused with iron deficiency anaemia in the antenatal period.

Alpha plus thalassaemia carrier 7. The individual is generally healthy but there is a reduction in alpha globin chain production and they may have a mild anaemia with a mean cellular haemoglobin MCH that is usually less than 25pg.

This can be confused with iron deficiency anaemia. Haemoglobin H disease is a mild to moderate condition. It does not usually require treatment or lifelong blood transfusions, however short-term transfusions may occasionally be required during critical periods, such as pregnancy or illness or if the individual has an infection.

Haemoglobin H Disease 7. As a result, no alpha globin chains are produced, which results in a severe life-threatening anaemia in the fetus and, without intervention, is incompatible with extra-uterine life. The hydropic fetus can usually be diagnosed by ultrasound scan during the second trimester of pregnancy.

Very occasionally, babies survive with intra-uterine transfusions. However, there is a high risk of significant disabilities after birth. In the UK around 20 to 30 couples annually are identified as being at high risk of having a baby with alpha thalassaemia major. Inheritance of alpha thalassaemia major 8.

Beta thalassaemia There are 2 main thalassaemia conditions depending on the genotype of the beta thalassaemia gene mutation inherited. They are: thalassaemia major 8. Babies who may have inherited a beta thalassaemia gene should be tested when they are over 9 months of age to confirm their carrier status A beta thalassaemia carrier may be misdiagnosed as having iron deficiency anaemia because the red blood cells are smaller and paler than usual, and there may be a lower than normal haemoglobin level.

Further details are available in the leaflet Information for adult haemoglobinopathy carriers — you are a beta thalassaemia carrier. Clinical implications vary depending on the gene mutations inherited from both parents.

The individual usually has a degree of anaemia, but the condition is not as severe as beta thalassaemia major. The individual usually manages without regular blood transfusions but there may be splenomegaly and the requirement for occasional blood transfusions during pregnancy or illness. Regular monitoring by a specialist is recommended. In beta thalassaemia major there is severely reduced or absent production of the beta globin chains that make up normal adult haemoglobin, due to defective beta globin genes which are inherited from both parents.

This results in severe, life-threatening anaemia which usually requires regular blood transfusions to sustain life. Although there is no specific newborn screening programme, using the current technology most babies with beta thalassaemia major are identified during the newborn screening process. There are approximately 20 to 30 babies born with beta thalassaemia major each year. The NHR has a record of more than 1, individuals with thalassaemia conditions.

As inclusion in the registry is voluntary, it is possible the total number is greater than this. Management of individuals with beta thalassaemia major Although beta thalassaemia major is not included in the NHS NBS Screening Programme, children with this condition are usually identified and should be referred for specialist care.

It also gives parents the opportunity to learn about the condition before complications arise. The management of individuals with beta thalassaemia major aims to correct the severe anaemia and includes: blood transfusions every 3 to 5 weeks, usually starting from approximately 9 to 12 months of age iron chelation therapy to remove the excess iron either orally or by subcutaneous injection regular hospital appointments to monitor the condition splenectomy for hypersplenism Supportive care is important for people affected by beta thalassaemia major.

They: should be encouraged to avoid iron rich foods and have a daily vitamin C supplement may be suitable for bone marrow or stem cell transplant to cure their condition, although their genetic profile does not change may need psycho-social support in addition to medical care There is a risk of early death unless patients adhere to the strict regime of blood transfusions and iron chelation.

Thalassaemia major can be cured by bone marrow or stem cell transplant, but the genetic profile of the individual does not change. One potential side effect of undergoing the procedure is infertility. However, complications are usually related to an excess of iron accumulated in the body due to the regular blood transfusions. This can result in: damage to the pituitary glands which could affect: growth and delay puberty insulin production, resulting in diabetes hypothyroidism.



Haematology Back cover copy This unique book is written by Barbara Bain, a leading haematologist with a reputation for her educational prowess in the field. It provides a concise overview of the haemoglobinopathies and focuses on the selection, performance, and interpretation of relevant laboratory tests. The tests dealt with are mainly those done regularly in diagnostic haematology laboratories. Where more specialist tests are required, the reader is given an overview of what the specialist centre will do, with guidance on what the result will imply. This book is extremely practical in orientation and is an essential reference volume in the haematology laboratory.


Understanding haemoglobinopathies


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