Inherited Spherocytosis

Hereditary Spherocytosis is a genetically haemolytic Anaemia; it is inherited as a dominant condition. 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 is characterized by the spherically shaped of red blood cells. Red blood cells usually have a normal shape . which are biconcave disc shaped, normal red blood cells usually have a lifespan of 100-120 days but the disordered cells live up to around 10-30 days this is because when the cells are passed through the spleen overtime they lose small amounts of their membrane and this gives them the spherically shape. Having hereditary Spherocytosis leads to other conditions such as haemolytic anaemia.

HOW IS HEDITARY SPECTROSYTOSIS DEVLOPED INTO ANMEIA?

The doughnut shaped red blood cells have a protein called haemoglobin in them this carries the oxygen around the body, this leads to anaemia because as the blood cells travel through the spleen many of them die and leads to low levels of the red blood cells so the tissues are not getting the required oxygen needed.

In a journal written by P.H.B. Bolton Maggs, states that Hs is most commonly found in northern Europe and Northern Americans they quote an incidence of 1 in 5000 births (Morton et al, 1962) as the understanding of Hs has increased there have found that that Hs is common in other ethnic groups such as Africa, Algeria, North Brazil, Tunisia, Egypt, Japan and India (Godal & Heisto, 1981; Eber et al, 1992) there is also Hs is rarely reported in the black population around 15 cases.

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 cells 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 tests may be needed. The table below illustrates some of the popular screening tests used for HS.

Treatment for H.S can be derived and put into practice once a diagnosis of the disease is made, whether its mild, moderate or severe, facilitates in narrowing down the doctoring that is required. (table) In a milder case of the disease a specific treatment is not necessarily advised by medics. Folate acid supplements are usually prescribed for lifelong use to produce an adequate amount of red blood cells. This form of therapy is ideal for individuals that are diagnosed with mild H.S, with the correct dose set at 5mg for adults and 2.5mg for children with severe haemolysis. Folate is usually found in foods such as fresh fruit and vegetable, cereals, breads and rice. A surgical approach for mild diagnosis is a prophylactic laparoscopic cholecystectomy. This operation takes place when bilirubin gallstones form within the gall bladder, where bilirubin itself is a product of broken down old blood cells. This o peration is a keyhole surgery that completely removes the gallbladder, which leads to a less likely chance to have a splenectomy. In more moderate and severe cases treatment could result from blood transfusions or a splenectomy, with the removal of the spleen in its entirety, this is a more universal approach, preferably a splenectomy should be implemented upon until the age of 5-6. However clinically speaking it is advised that a complete splenectomy may not be crucial if the disease isn't severe enough, therefore there is an option in carrying out a partial splenectomy, depending on the scale of urgency as this procedure would lower the risk of infection1, but comes with long term effects. The treatment management for this type of surgery could lead to the requirement of blood transfusions as it will allow the replaced of the red blood cells that are lost due to the splenectomy

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 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

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