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  Other blood disorders
Other blood disorders

Dr Moez Dungarwalla is a Haematology specialist based in Milton Keynes. He is the clinical lead and cancer lead for blood disorders at Milton Keynes NHS Foundation trust and is responsible for the diagnosis and treatment of blood disorders including Thrombophilia, Myeloproliferative disorders (MPDs), Myelodysplastic syndrome (MDS), Aplastic Anaemia, Immune Thrombocytopaenia Purpura (ITP) and Haemochromatosis.

Thrombosis may occur in arteries and in veins.

Arterial thrombosis is seen predominantly as myocardial infarction and ischaemic stroke due to atherosclerosis.

Venous thrombosis is a relatively sudden phenomenon which occurs as a result of interacting genetic, environmental and behavioural risk factors. The most common forms are deep vein thrombosis (DVT) and pulmonary embolism (PE).

The risk factors for venous thrombosis can be classified as Acquired or Genetic.

Acquired thrombophilia

  • Immobility – bed rest, plaster casts, trauma, obesity
  • Surgery – particularly orthopaedic surgery
  • Cancer
  • Oral contraceptive Pill /Hormone Replacement therapy
  • Pregnancy
  • Old age
  • Air Travel greater than 6 hours in duration
  • Anti-phospholipid antibody syndrome – diagnosis requires persistent positivity for lupus anticoagulant or anti-cardiolipin antibodies over 12 weeks. Can lead to a clinical syndrome characterised by recurrent early miscarriage, venous thrombosis or arterial thrombosis.

Genetic thrombophilia

  • Antithrombin III deficiency
  • Protein C deficiency
  • Protein S deficiency
  • Factor V Leiden deficiency
  • Prothrombin mutation

Deficiencies of antithrombin, protein C and protein S are found in less than 1% of the population. They increase the risk of thrombosis about 10 fold in heterozygotes with the highest risk in individuals with antithrombin deficiency. Homozygous deficiencies are exceedingly rare and lead to a life threatening thrombophilic tendency shortly after birth.

As deficiencies in antithrombin, protein C and protein S are rare they contribute to only 1-2% percent of venous thrombosis in the population.

Factor V Leiden is the most common genetic thrombophilia and is present in 5% of the population. In heterozygotes the risk of venous thrombosis is 5 fold increased and in homozygotes the risk is 50 fold increased. It contributes to 25% of venous thrombosis in the population.

Prothrombin gene mutation, like factor V Leiden, is quite common and is only seen in Caucasians. It is found in 2-3% of Caucasians and increases the risk of venous thrombosis 3 fold. It contributes to 4 % of venous thrombosis in the population.

Myeloproliferative disorders (MPDs)

The myeloproliferative disorders are a group of conditions closely related to acute myeloid leukaemia in which there is excess production of one or more type of blood cell in the bone marrow.

There are 4 main types:

  1. Polycythaemia Vera
  2. Essential Thrombocythaemia
  3. Myelofibrosis
  4. Chronic Myeloid Leukaemia (see Leukaemia for more details)
1. Polycythaemia vera

Polycythaemia vera is a myeloproliferative disorder in which the abnormal bone marrow produces too many red blood cells. As a result the blood is thicker than normal. In some patients the number of white cells and platelets may also be increased.

Patients with polycythaemia present above the age of 40 and the median age at diagnosis is 60.

Many patients have no symptoms or signs, however when the number of red cells or platelets is high, patients are at high risk of blood clot formation in the brain (stroke) or heart (heart attack).

Patients may present with headaches, blurred vision, itching (often noticed after a hot bath) and plethora (when the patient’s skin may appear much redder in colour than normal).


Polycythaemia may be diagnosed by a simple test. The Haematocrit or PCV (Packed cell volume) is a measurement of the proportion of the blood occupied by red blood cells. A persistently raised PCV >0.52 in males or > 0.48 in females requires additional investigations to confirm the cause of polycythaemia. Polycythaemia Vera can be distinguished from secondary causes of Polycythaemia by the presence of the JAK 2 mutation. This can be detected by a simple blood test and is present in 99% of patients with polycythaemia vera. Hence the absence of the JAK2 mutation effectively excludes polycythaemia vera.


The simplest and most rapid way to treat polycythaemia vera is to reduce the number of red cells by venesection or phlebotomy. About one pint (half a litre) is removed at a time and the procedure is repeated as often as necessary with the target of reducing the PCV <0.45.

If the patient has progressive splenomegaly, constitutional symptoms or a raised platelet count then a more appropriate form of treatment is to use an oral chemotherapy drug such as hydroxyurea. Aspirin at a small daily dose of 75mg may also help prevent blood clots.

Approximately 10% of patients with polycythaemia may eventually go on to develop acute myeloid leukaemia, while in a similar number the condition may transform into myelofibrosis.

2. Essential thrombocythaemia

Essential thrombocythaemia is due to an abnormality of the platelet producing cells (megakaryocytes) in the bone marrow leading to an excessive production of platelets and a high number of platelets in the blood.


The condition is most commonly diagnosed between the ages of 50 and 70, and is only diagnosed when other causes of a high platelet count have been ruled out.


Although the majority of patients are asymptomatic most will however, require some form of treatment. This may simply be low doses of aspirin or if a patient has a very high platelet count and is at high risk of bleeding or thrombotic events then the platelet count may need to be lowered with oral chemotherapy agents such as hydroxyurea or anagrelide.

3. Myelofibrosis

Myelofibrosis is a myeloproliferative disorder in which the bone marrow is initially over-active but then develops scar tissue (fibrosis).

Normal bone marrow has a very fine network of fibres supporting the blood forming tissues. In myelofibrosis this network is coarsened and thickened so that normal blood cell production is progressively reduced. As a result blood cell production begins to take place in the liver and spleen which become enlarged. The production of blood cells in the liver and spleen is less efficient and so patients frequently develop anaemia.


Myelofibrosis is usually diagnosed following examination of a blood film which may show a leuco-erythroblastic blood film appearance with abnormally shaped red blood cells. Confirmation of the diagnosis requires a bone marrow trephine biopsy to detect the fibrous tissue and Cytogenetics analysis to exclude the presence of the Philadelphia chromosome found in chronic myeloid leukaemia (CML).


Treatment for patients with myelofibrosis depends whether patients have symptoms or are anaemic. Patients who have severe anaemia will require regular blood transfusions. Patients with constitutional symptoms (night sweats, weight loss, itching) or progressive painful splenomegaly may be considered for chemotherapy drugs such as hydroxyurea, thalidomide or interferon. In some cases an operation to remove the spleen (splenectomy) can be helpful.

A minority of patients may be eligible for a donor stem cell transplant which is the only treatment with the potential of cure. Unfortunately most patients are too old to be considered for this treatment.

Myelodysplastic syndrome (MDS)

The myelodysplastic syndromes are a group of disease in which the production of blood cells by the bone marrow is disrupted. Only a minority of patients with MDS develop acute myeloid leukaemia.

The bone marrow in MDS is typically hyperactive and yet the number of blood cells in the circulation is reduced. This is because most of the cells being produced in the bone marrow are defective and are destroyed before they leave the bone marrow.


Although most patients have no obvious cause for their disease certain chemicals, chemotherapy drugs and ionising radiation may lead to MDS. MDS may therefore develop after treatment for lymphoma, myeloma, ovarian cancer, testicular cancer or breast cancer. The median age at diagnosis is between 65 and 75 years.


MDS is often difficult to treat.

Treatment is often planned according to the IPSS score which is determined by:

  • the proportion of leukaemia (blast) cells in the bone marrow
  • the number of blood cell types which are reduced
  • Cytogenetics (the chromosome changes that can be seen in MDS)

The only potentially curative option is a donor stem cell transplant in younger fitter patients.

IPSS low

Neither intensive chemotherapy nor stem cell transplantation is recommended for this group of patients as they have a comparatively long median survival with supportive care only.

Supportive care may be in the form of regular red blood cell or platelet transfusions to treat anaemia or low platelet counts respectively. Patients who develop iron overload as a result of numerous blood transfusions may require iron chelation therapy.

Recombinant human erythropoietin may be of benefit in some patients with MDS to specifically stimulate red blood cell production and reduce the need for red blood cell transfusions.

IPSS Intermediate/high

Patients under 65 years and fit for transplant should be assessed for fitness and eligibility for a donor stem cell transplant as soon as possible after diagnosis.

Patients who are not eligible for a transplant should be considered for 5-azacytidine chemotherapy which has been shown to reduce blood transfusion requirements and slow the progression to acute myeloid leukaemia leading to an improvement in overall survival for these patients.

To find out more about Dr Moez Dungarwalla and private Blood Disoder treatments or to arrange a consultation, please contact:
Phone Email
01908 467 700
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