Hereditary Spherocytosis

Hereditary Spherocytosis (HS) is the most common red cell membrane disorder [5]. HS is a hereditary disease which is characterised by the spherical shape (fig. 1) of the affected red blood cells [1]. The disorder is generally inherited as a dominant condition with a wide spectrum of severity [1]. The Seattle children's website states that if a parent has hereditary Spherocytosis there is a 50% chance that their children will have a similar condition. HS can usually be divided into different criteria starting with asymptotic (which does not show any symptoms and does not require any treatment) leading to mild, moderate and going up to the severe form. In severe cases, it can result in severe anaemia, spleenomegaly and jaundice [5]. Hs can be diagnosed from birth from birth to old age, generally younger people tend to have the more severe form of HS. Hs is found in all races and in all countries, however it is rarely reported in Blacks, [2]. Every 1 in 5000 births are reported as having HS in North America and Northern Europe [3]. However, HS can also be caused by a new mutation or because expression is determined by a second associated gene. This can cause 25% of HS cases [4]. Having hereditary Spherocytosis can lead to other conditions such as haemolytic anaemia.

In order to diagnose a patient with HS, a laboratory diagnosis technique is used, which consist of research into clinical and family history, a physical examination of the patient, and an analysis of laboratory data 1. Laboratory data refers to a full blood count (inc. Red cell indices and cell morphology) and reticulocyte count. Red cell indices for a patient with HS would be a low haemoglobin, low MCV (mean cell volume), high MCHC (mean corpuscular haemoglobin concentration), high RDW (RBC distribution width) and high reticulocyte count. The cell morphology of the red cells is due the loss of the micro vesicles from the discoidal cells. In severe cases of HS both a deficiency in spectrin and ankyrin contributes to the irregular shape of the cell.

Hereditary Spherocytosis can be diagnosed firstly by examining the patient for any of the following symptoms. Some of the symptoms which could determine the presence of HS are mild to moderate haemolysis, jaundice and anaemia in the neonatal period, and in severe forms of HS, the patient may appear to have leg ulcers or chronic haemolytic anaemia 2. Damage to internal organs, such as an enlarged spleen, gall stones (formed due to excess bilirubin in the blood) and chloecystisis (inflammation of the gall bladder) is common in patients with HS 3. Splenomegaly is a common defect in children and adults with HS 4. Splenomegaly is an enlargement of the spleen. This is caused by clogging of the spleen with red blood ceslls 5. A patient can be diagnosed with one of three forms of HS, mild, moderate or severe. This is usually determined from the spectrin content of the cell membrane i.e. the lower the spectrin content, the more severe the case 6.

The above criteria can be used to diagnose the patient, but in some cases additional test may be needed. The table below illustrates some of the popular screening tests used for HS.

Anaemia, the early indication of the development of H.S is the point where this sort of treatment comes to mind. However post treatment problems may still arise even though the blood is returning to its normal high levels of haemoglobin, the immune system may start to cause trouble in terms of rejecting the new blood and therefore attacking sections of it.3 Preventing this from occurring blood tests are carried out to match the relevant blood type for the transfusion. Further and extensive complications arise in developing post- splenectomy sepsis, as the individual would become susceptible in fighting against bacteria and viruses within the blood. According to research the long term effects of the sepsis condition are said to be high, those individual who experience this condition are said to be alive for less than a year .4

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