2. Beta thalassaemia
is due to mutations, in one or both of the beta globin genes. There are 100 to 200 mutations that have been identified but only about 20 are common. The severity of the Anaemia caused by beta thalassaemia depends on which mutations are present and on whether they decrease beta globin production (called beta+ thalassaemia) or completely eliminate it (called beta0 thalassaemia). The different types of beta thalassaemia include:
Beta Thalassaemia Trait. A person with this condition has one normal gene and one with a mutation. They will usually experience no health problems other than microcytosis (small red blood cells) and a possible mild Anaemia that will not respond to iron supplements. This gene mutation can be passed on to an individual’s children.
Thalassaemia Intermedia. In this condition, an affected person has two abnormal genes but is still producing some beta globin. The severity of the Anaemia and health problems experienced depends on the mutations present. The dividing line between thalassaemia intermedia and thalassaemia major is the degree of Anaemia and the number and frequency of blood transfusions required to treat it. Those with thalassaemia intermedia may need occasional transfusions but do not require them on a regular basis.
Thalassaemia Major (also called Cooley’s Anaemia). This is the most severe form of beta thalassaemia. The patient has two abnormal genes that cause either a severe decrease or complete lack of beta globin production, preventing the production of significant amounts of HbA. This condition usually appears in an infant after 3 months of age and causes life-threatening Anaemia. This Anaemia requires lifelong regular blood transfusions and considerable ongoing medical care. Over time these frequent transfusions lead to excessive amounts of iron in the body. Left untreated, this excess iron can deposit into the liver, heart and other organs, and can lead to a premature death from organ failure.
Other forms of thalassaemia occur when a gene for beta thalassaemia is inherited in combination with a gene for a haemoglobin variant. (link to Hb Variant page) The most important of these are:
HbE – beta thalassaemia. HbE is one of the most common haemoglobin variants, found predominantly in people of Southeast Asian descent. If a person inherits one HbE gene and one beta thalassaemia gene, the combination produces HbE-beta thalassaemia which causes a moderately severe Anaemia similar to beta thalassaemia intermedia.
HbS - beta thalassaemia or sickle cell - beta thalassaemia. HbS is one of the most well known of the haemoglobin variants. Inheritance of one HbS gene and one beta thalassaemia gene results in HbS-beta thalassaemia. The severity of the condition depends on the amount of beta globin produced by the beta gene. If no beta globin is produced, the clinical picture is almost identical to sickle cell disease.
Laboratory Tests
1. FBC (full blood count). The FBC is a snapshot of the cells and fluid in your bloodstream. Among other things, the FBC will tell the doctor how many red blood cells are present, how much haemoglobin is in them, and give the doctor an evaluation of the size and shape of the red blood cells present. MCH (mean corpuscular haemoglobin) and MCV (mean corpuscular volume) are measurements of the haemoglobin content and size of the red blood cells. Alow MCH or MCV is often the first indication of thalassaemia. If the MCH or MCV is low and iron-deficiency has been ruled out, the person may be a thalassaemia trait carrier.
2. Blood film (smear). In this test a thin stained layer of blood is examined on a slide, under a microscope. The number and type of white blood cells, red blood cells, and platelets can be manually counted and be evaluated to see if they are normal and mature. variety of disorders affect normal blood cell production. With thalassaemia, the red blood cells are often microcytic (small). They may also be:
Hypochromic (pale - indicating less haemoglobin)
Vary in size (anisocytosis) and shape (poikilocytosis)
Be nucleated (not normal in a mature R&1)
Be distorted to produce “target cells”, which look like a bull’sMeye under the microscope.
3. Iron studies. These may include: Iron, Ferritin, UIB1, TIBC, and Percent Saturation of Transferrin. These tests measure different aspects of the body’s iron storage and usage.
They are ordered to help determine whether an iron deficiency is causing and/or exacerbating a patient’s Anaemia. One or more of them may also be ordered to help monitor the degree of iron overload in a patient with thalassaemia.
4. Haemoglobinopathy (Hb) evaluation. This test measures the type and relative amounts of haemoglobins present in the red blood cells. Haemoglobin A, composed of both alpha and beta globin, is the major normal type of haemoglobin found in adults. greater percentage of HbA2 and/or HbF is usually seen in beta thalassaemia trait. HbH may be seen in alpha thalassaemia , but only when at two of the four alpha genes are deleted or mutated.
5. DNA analysis. This test is used to investigate deletions and mutations in the alpha and beta globin producing genes. Family studies can be done to evaluate carrier status and the types of mutations present in other family members. DNA testing is not routinely done but can be used to help diagnose thalassaemia, and to determine carrier status. Ht is the only reliable way of diagnosing carriers who have only one of four alpha genes deleted or mutated.