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    Thalassaemias

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    Salim Uddinkhan
    1) Thalassemias are genetic blood disorders caused by reduced synthesis of the alpha or beta globin chains that make up hemoglobin. 2) Alpha thalassemia is classified based on the number of alpha globin genes deleted, ranging from mild to lethal forms. Beta thalassemia major occurs when no or little beta chains are synthesized. 3) Thalassemia intermedia describes moderate cases not requiring regular transfusions, which can be caused by various genetic factors resulting in higher fetal hemoglobin or milder beta chain defects.

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    Thalassaemias

    Uploaded by

    Salim Uddinkhan
    11 views8 pages
    1) Thalassemias are genetic blood disorders caused by reduced synthesis of the alpha or beta globin chains that make up hemoglobin. 2) Alpha thalassemia is classified based on the number of alpha globin genes deleted, ranging from mild to lethal forms. Beta thalassemia major occurs when no or little beta chains are synthesized. 3) Thalassemia intermedia describes moderate cases not requiring regular transfusions, which can be caused by various genetic factors resulting in higher fetal hemoglobin or milder beta chain defects.

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    1) Thalassemias are genetic blood disorders caused by reduced synthesis of the alpha or beta globin chains that make up hemoglobin. 2) Alpha thalassemia is classified based on the number of alpha globin genes deleted, ranging from mild to lethal forms. Beta thalassemia major occurs when no or little beta chains are synthesized. 3) Thalassemia intermedia describes moderate cases not requiring regular transfusions, which can be caused by various genetic factors resulting in higher fetal hemoglobin or milder beta chain defects.

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    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    11 views8 pages

    Thalassaemias

    Uploaded by

    Salim Uddinkhan
    1) Thalassemias are genetic blood disorders caused by reduced synthesis of the alpha or beta globin chains that make up hemoglobin. 2) Alpha thalassemia is classified based on the number of alpha globin genes deleted, ranging from mild to lethal forms. Beta thalassemia major occurs when no or little beta chains are synthesized. 3) Thalassemia intermedia describes moderate cases not requiring regular transfusions, which can be caused by various genetic factors resulting in higher fetal hemoglobin or milder beta chain defects.

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    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 8

    Thalassaemias

    Introduction

    • These are a heterogeneous group of genetic

    disorders that result from a reduced rate of

    synthesis of α or β chains. β - Thalassaemia is more

    common in the Mediterranean region while α -

    thalassaemia is more common in the Far East.


    Classification of thalessemia
    α - Thalassaemia syndromes

    • These are usually caused by gene deletions. As there are normally four copies of the α - globin

    gene, the clinical severity can be classified according to the number of genes that are missing

    or inactive. Loss of all four genes completely suppresses α - chain synthesis and because the α

    chain is essential in fetal as well as in adult haemoglobin this is incompatible with life and

    leads to death in utero (hydrops fetalis; . Three α gene deletions leads to a moderately severe

    (haemoglobin 7 – 11 g/dL) microcytic, hypochromic anaemia with splenomegaly. This is

    known as Hb H disease because haemoglobin H ( β 4 ) can be detected in red cells of these

    patients by electrophoresis or in reticulocyte preparations. In fetal life, Hb Barts ( γ 4 ) occurs.


    β - Thalassaemia major
    • This condition occurs on average in one in four off spring if
    both parents are carriers of the β - thalassaemia trait. Either no
    β chain ( β 0 ) or small amounts ( β + ) are synthesized. Excess
    α chains precipitate in erythroblasts and in mature red cells
    causing the severe ineffective erythropoiesis and haemolysis
    that are typical of this disease. The greater the α - chain excess,
    the more severe the anaemia. Production of γ chains helps to ‘
    mop up ’ excess α chains and to ameliorate the condition. Over
    400 different genetic defects have now been detected
    α - Thalassaemia: haemoglobin H disease three α - globin gene deletion). The blood fi
    lm shows marked hypochromic microcytic cells with target cells and poikilocytosis. (b)
    α - Thalassaemia: haemoglobin H disease. Supravital staining with brilliant cresyl blue
    reveals multiple fine, deeply stained deposits ( ‘ golf ball ’ cells) caused by precipitation
    of aggregates of β - globin chains. Hb H can also be detected as a fast – moving band
    on haemoglobin electrophoresis
    β - Thalassaemia trait ( minor)
    • This is a common, usually symptomless, abnormality
    characterized like α - thalassaemia trait by a hypochromic
    microcytic blood picture (MCV andMCH very low) but high red
    cell count ( > 5.5 × 10 12 /L) and mild anaemia (haemoglobin 9
    – 12 g/dL). It is usually more severe than α - thalassaemia trait.
    A raised HbA2 ( > 3.5%) confirms the diagnosis. One of the
    most important indications for making the diagnosis is that it
    allows the possibility of prenatal counselling to patients with a
    partner who also has a significant haemoglobin disorder. If
    both carry β - thalassaemia trait there is a 25% risk of having a
    child with thalassaemia major.
    Thalassaemia intermedia
    • Cases of thalassaemia of moderate severity (haemoglobin 7.0 – 10.0
    g/dL) who do not need regular transfusions are called thalassaemia
    intermedia. This is a clinical syndrome which may be caused by a
    variety of genetic defects: homozygous β - thalassaemia with
    production of more Hb F than usual, e.g. from mutations of the
    BCL11A gene or with mild defects in β - chain synthesis, by β -
    thalassaemia trait alone of unusual severity ( ‘ dominant ’ β -
    thalassaemia) or β - thalassaemia trait in association with mild
    globin abnormalities such as Hb Lepore. The coexistence of α -
    thalassaemia trait improves the haemoglobin level in homozygous β
    - thalassaemia by reducing the degree of chain imbalance and thus
    of α - chain precipitation and ineffective erythropoiesis.

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