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Thalassemia
INTRODUCTION

 Thalassemia is an inherited autosomal recessive
  blood disorder.
 which results in excessive destruction of red
  blood cells and further leads to anemia.
 It is caused by variant or missing genes that affect
  how the body make haemoglobin.
 People with thalassemia make less haemoglobin
  and fewer circulating red blood cells than normal
  ,result in mild or severe anemia.
ALPHA
THALASSEMIA




              THALASSEMA


    BETA
THALASSEMIA
Thalassemia
Alpha Thalassemia

 Alpha thalassemia is the result of changes in the
  genes for the alpha globin component in hemoglobin.
 The worldwide distribution of inherited Alpha-
  Thalassemia is corresponding to areas of Malaria
  exposure.
ETIOLOGY

 Mutation in the DNA of cells that produce
  hemoglobin
 It is a form of thalassemia involving the
  genes HB1 and HB2
 It is most commonly inherited in a
  Mendelian recessive fashion
PATHPHYSIOLOGY

 Alpha thalassemia results when there is
  disturbance in production of α-globin from any
  or all four of the α-globin genes.
 Genes are responsible for regulating the
  synthesis and structure of different globins which
  are divided into 2 clusters.
 The α-globin genes are encoded on chromosome
  16 and the γ, δ, and β-globin genes are encoded
  on chromosome 11
 A normal person carries a linked pair of alpha
  globin genes, 2 each from maternal and paternal
  chromosome.
 Therefore, alpha thalassemia occurs when there
  is a disturbance in production of α-globin from
  any or all four of the α-globin genes.
 When functional point mutations, frame shift
  mutations, nonsense mutations, and chain
  termination mutations occur within or around the
  coding sequences of the alpha-globin gene
  cluster hemoglobin is impaired.
 When that occurs, protein synthesis may be
  inhibited.
 Normal production of alpha chains is absent which
  results in excess production of gamma- globin chains in
  the fetus and newborn or beta- globin chains in children
  and adults.
 The β-globin chains are capable of forming soluble
  tetramers (beta-4, or HbH)
 This form of hemoglobin is still unstable and precipitates
  within the cell, forming insoluble inclusions called Heinz
  bodies
 These Heinz bodies damage the red blood cells.
 This further results in damage to erythrocyte precursors
  and ineffective erythropoiesis in the bone marrow,
  hypochromia and microcytosis of circulating red blood
  cells
Thalassemia
CLINICAL PRESENTATION
 Shortage of red blood cells- Anemia
 Pale skin
 Weakness
 Fatigue
 Enlarged liver and spleen- hepatosplenomegaly
 Heart defects
 Abnormalities of the urinary system or genitalia
 Hb Bart syndrome can cause complications in pregnancy such
  as
 High blood pressure
 Premature delivery
 Abnormal bleeding
 Jaundice
Treatment of Alpha Thalassemia
 Treatment for thalassemia often involves regular
  blood transfusions and folate supplements.
 If you receive blood transfusions, you should not take
  iron supplements. Doing so can cause a high amount
  of iron to build up in the body, which can be harmful.
 Persons who receive significant numbers of blood
  transfusions need a treatment called chelation therapy
  to remove excess iron from the body.
 Bone marrow transplant may help treat the disease in
  some patients, especially children.
Surgical Treatment
 Perform splenectomy if transfusion
  requirements are increasing.
 Surgical or orthodontic correction may
  be necessary to correct skeletal
  deformities of the skull and maxilla
  caused by erythroid hyperplasia.


DEFEROXAMINE - INJECTION
Medications
FOLIC ACID- ORAL
FOLIC ACID - INJECTION
FOLIC ACID - ORAL

 BRAND NAME(S): FA-8

 USES
  Folic acid is the man-made form of folate which is a
   B6-vitamin naturally found in some foods.
  It is needed to form healthy cells, especially red
   blood cells.
  Active forms of folic acid are: L-methylfolate and
   levomefolate
  Folic acid supplements are used to treat or prevent
   low folate levels.
SIDE EFFECTS

Folic acid usually has very few side
 effects
Possible side effects include:
 Serious allergic reaction, including:
  rash, itching/swelling (especially of
  the face/tongue/throat), dizziness,
  trouble breathing
Folic acid is safe to take during pregnancy
 when used as directed. It is included in
 prenatal vitamin products.
Certain spinal cord birth defects may be
 prevented by taking adequate amounts of
 folic acid during pregnancy.
Thalassemia
Beta Thalassemia

 Specifically, it is characterized by a
  genetic deficiency in the synthesis
  of beta- globin chains.


 Beta-globin is a component
  (subunit) of hemoglobin.
Types


   Thalassemia Major
     (Cooley's anemia)
                             Thalassemia Minor
    -severe form of beta
     thalassemia              - presence of one normal
                                 gene and one with a
    - presence of two            mutation
     abnormal genes that
     cause either a severe   - causes mild to
     decrease or complete        moderate mild
     lack of beta globin         anemia.
     production.
ETIOLOGY
Beta thalassemia is caused by a deficiency of Beta
 globin inherited in an autosomal recessive
 pattern, which means both copies of the
 HBB(Hemoglobin beta) gene in each cell have
 mutations.
The parents of an individual with an autosomal
 recessive condition each carry one copy of the mutated
 gene, but they typically do not show signs and
 symptoms of the condition.
Thalassemia
Etiology-cont’d
 A lack of beta-globin leads to a reduced amount of functional
  hemoglobin. Without sufficient hemoglobin, red blood cells
  do not develop normally, causing a shortage of mature red
  blood cells.
 The low number of mature red blood cells leads to anemia
 and other associated health problems in people with beta
 thalassemia.
Clinical Presentations
Thalassemia minor- characterized by mild anemia
Symptoms of beta thalassemia major appear in the first two years
 of life.
 Fatigue and weakness
 Pale skin or jaundice (yellowing of the skin)
 Protruding abdomen with enlarged spleen and liver
Clinical Presentations
 Dark urine
 Abnormal facial bones and poor growth
 A poor appetite.
 Adolescents with the severe form of beta
  thalassemia may experience delayed puberty.
PATHOPHYSIOLOGY
 In Beta thalassemia major, patients have severe anemia, ineffective
  erythropoiesis, extramedullary hematopoiesis, and iron overload
  resulting from transfusion and increased iron absorption.
 The skin may show pallor from anemia and jaundice from
  hyperbilirubinemia.
 The skull and other bones may be deformed secondary to erythroid
  hyperplasia with intramedullary expansion and cortical bone
  thinning.
 Heart examination may reveal findings of cardiac failure and
  arrhythmia, related to either severe anemia or iron overload.
 Abdominal examination may reveal changes in
  the liver, gallbladder, and spleen.
 Patients who have received blood transfusions
  may have hepatomegaly or chronic hepatitis due
  to iron overload.
 The gallbladder may contain bilirubin stones
  formed as a result of the patient's lifelong
  hemolytic state.
Pathophysiology- Cont’d

 Splenomegaly typically is observed as part of the
  extramedullary hematopoiesis or as a hypertrophic
  response related to the extravascular hemolysis.
 In addition to cardiac
  dysfunction, hepatomegaly, and hepatitis, iron
  overload can also cause endocrine
  dysfunction, especially affecting the
  pancreas, testes, and thyroid.
 Transfusion-associated viral hepatits resulting in
 cirrhosis or portal hypertension also may be seen.
Surgical Treatment


Splenectomy- decrease transfusion requirements
Cholecystectomy- Patients with thalassemia
 minor may have bilirubin stones in their
 gallbladder and, if symptomatic, may require
 treatment. Perform a cholecystectomy using a
 laparoscope or carry out the procedure at the
 same time as the splenectomy.
TREATMENT


Treatment for beta thalassemia involves iron chelation.
1. Deferoxamine
2. Deferasirox
CURATIVE METHOD

BMT FROM COMPATIBLE     BMT FROM HAPLOIDENTICAL
       DONOR                MOTHER TO CHILD



   Free survival 87%      Free survival 70%

   Rejection 10%          Rejection 23%

   Mortality 3%           Mortality 7 %
EPIDEMIOLOGY
References


   American College of Obstetricians and Gynecologists (ACOG). Hemoglobinopathies in Pregnancy. ACOG Practice Bulletin, number 78, January 2007.

   Beta Thalassemia. (Sept 2, 2011). Retrieved from http://emedicine.medscape.com/article/206490-overview

   Bleibel, S. et al. Thalassemia, Alpha. Retrieved: 29 September, 2011 from http://emedicine.medscape.com/article/206397-overview#a0104

   Cohen, A.R., et al. Thalassemia. Hematology 2004, American Society of Hematology, pages 14-34.

   Cooley’s Anemia Foundation. About Thalassemia. Updated 2007.

   Cunningham, M.J. Update on Thalassemia: Clinical Care and Complications. Pediatric Clinics of North America, volume 55, April 2008, pages 447-460.

   Deferoxamine [Pharm GKB]. (n.d.). Retrieved from http://www.pharmgkb.org/do/serve?objId=PA164746490&objCls=Drug#tabview=tab1

   Di Bartolomeo, P., et al. Long-term Results of Survival in Patients with Thalassemia Major Treated with Bone Marrow Transplantation. American Journal of
    Hematology, February 13, 2008 (Epub ahead of print).

   Exjade (Deferasirox) Drug Information… (Aug 19, 2011). Retrieved from http://www.rxlist.com/exjade-drug.htm

   Food and Drug Administration (FDA). FDA Approves First Oral Drug for Chronic Iron Overload. FDA News, November 9, 2005

   Food and Drug Administration (FDA). FDA Approves First Oral Drug for Chronic Iron Overload. FDA News, November 9, 2005.

   Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine; and Yi-Bin
    Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital; and David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., Review
    Date: 1/31/2010,Thalassemia, retrieved on 2011-09-30, http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001613/

   Lucile Packard Children’s Hospital at Standford. 2011. Alpha Thalassemia. Retrieved: 29 September, 2011 from http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/hematology/thalapth.htmlth
Thalassemia

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Thalassemia

  • 2. INTRODUCTION  Thalassemia is an inherited autosomal recessive blood disorder.  which results in excessive destruction of red blood cells and further leads to anemia.  It is caused by variant or missing genes that affect how the body make haemoglobin.  People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal ,result in mild or severe anemia.
  • 3. ALPHA THALASSEMIA THALASSEMA BETA THALASSEMIA
  • 5. Alpha Thalassemia  Alpha thalassemia is the result of changes in the genes for the alpha globin component in hemoglobin.  The worldwide distribution of inherited Alpha- Thalassemia is corresponding to areas of Malaria exposure.
  • 6. ETIOLOGY  Mutation in the DNA of cells that produce hemoglobin  It is a form of thalassemia involving the genes HB1 and HB2  It is most commonly inherited in a Mendelian recessive fashion
  • 7. PATHPHYSIOLOGY  Alpha thalassemia results when there is disturbance in production of α-globin from any or all four of the α-globin genes.  Genes are responsible for regulating the synthesis and structure of different globins which are divided into 2 clusters.  The α-globin genes are encoded on chromosome 16 and the γ, δ, and β-globin genes are encoded on chromosome 11  A normal person carries a linked pair of alpha globin genes, 2 each from maternal and paternal chromosome.
  • 8.  Therefore, alpha thalassemia occurs when there is a disturbance in production of α-globin from any or all four of the α-globin genes.  When functional point mutations, frame shift mutations, nonsense mutations, and chain termination mutations occur within or around the coding sequences of the alpha-globin gene cluster hemoglobin is impaired.  When that occurs, protein synthesis may be inhibited.
  • 9.  Normal production of alpha chains is absent which results in excess production of gamma- globin chains in the fetus and newborn or beta- globin chains in children and adults.  The β-globin chains are capable of forming soluble tetramers (beta-4, or HbH)  This form of hemoglobin is still unstable and precipitates within the cell, forming insoluble inclusions called Heinz bodies  These Heinz bodies damage the red blood cells.  This further results in damage to erythrocyte precursors and ineffective erythropoiesis in the bone marrow, hypochromia and microcytosis of circulating red blood cells
  • 11. CLINICAL PRESENTATION  Shortage of red blood cells- Anemia  Pale skin  Weakness  Fatigue  Enlarged liver and spleen- hepatosplenomegaly
  • 12.  Heart defects  Abnormalities of the urinary system or genitalia  Hb Bart syndrome can cause complications in pregnancy such as  High blood pressure  Premature delivery  Abnormal bleeding  Jaundice
  • 13. Treatment of Alpha Thalassemia  Treatment for thalassemia often involves regular blood transfusions and folate supplements.  If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.  Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove excess iron from the body.  Bone marrow transplant may help treat the disease in some patients, especially children.
  • 14. Surgical Treatment Perform splenectomy if transfusion requirements are increasing. Surgical or orthodontic correction may be necessary to correct skeletal deformities of the skull and maxilla caused by erythroid hyperplasia. DEFEROXAMINE - INJECTION
  • 16. FOLIC ACID - ORAL  BRAND NAME(S): FA-8  USES  Folic acid is the man-made form of folate which is a B6-vitamin naturally found in some foods.  It is needed to form healthy cells, especially red blood cells.  Active forms of folic acid are: L-methylfolate and levomefolate  Folic acid supplements are used to treat or prevent low folate levels.
  • 17. SIDE EFFECTS Folic acid usually has very few side effects Possible side effects include: Serious allergic reaction, including: rash, itching/swelling (especially of the face/tongue/throat), dizziness, trouble breathing
  • 18. Folic acid is safe to take during pregnancy when used as directed. It is included in prenatal vitamin products. Certain spinal cord birth defects may be prevented by taking adequate amounts of folic acid during pregnancy.
  • 20. Beta Thalassemia  Specifically, it is characterized by a genetic deficiency in the synthesis of beta- globin chains.  Beta-globin is a component (subunit) of hemoglobin.
  • 21. Types Thalassemia Major (Cooley's anemia) Thalassemia Minor -severe form of beta thalassemia - presence of one normal gene and one with a - presence of two mutation abnormal genes that cause either a severe - causes mild to decrease or complete moderate mild lack of beta globin anemia. production.
  • 22. ETIOLOGY Beta thalassemia is caused by a deficiency of Beta globin inherited in an autosomal recessive pattern, which means both copies of the HBB(Hemoglobin beta) gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
  • 24. Etiology-cont’d  A lack of beta-globin leads to a reduced amount of functional hemoglobin. Without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells.  The low number of mature red blood cells leads to anemia and other associated health problems in people with beta thalassemia.
  • 25. Clinical Presentations Thalassemia minor- characterized by mild anemia Symptoms of beta thalassemia major appear in the first two years of life.  Fatigue and weakness  Pale skin or jaundice (yellowing of the skin)  Protruding abdomen with enlarged spleen and liver
  • 26. Clinical Presentations  Dark urine  Abnormal facial bones and poor growth  A poor appetite.  Adolescents with the severe form of beta thalassemia may experience delayed puberty.
  • 27. PATHOPHYSIOLOGY  In Beta thalassemia major, patients have severe anemia, ineffective erythropoiesis, extramedullary hematopoiesis, and iron overload resulting from transfusion and increased iron absorption.  The skin may show pallor from anemia and jaundice from hyperbilirubinemia.  The skull and other bones may be deformed secondary to erythroid hyperplasia with intramedullary expansion and cortical bone thinning.  Heart examination may reveal findings of cardiac failure and arrhythmia, related to either severe anemia or iron overload.
  • 28.  Abdominal examination may reveal changes in the liver, gallbladder, and spleen.  Patients who have received blood transfusions may have hepatomegaly or chronic hepatitis due to iron overload.  The gallbladder may contain bilirubin stones formed as a result of the patient's lifelong hemolytic state.
  • 29. Pathophysiology- Cont’d  Splenomegaly typically is observed as part of the extramedullary hematopoiesis or as a hypertrophic response related to the extravascular hemolysis.  In addition to cardiac dysfunction, hepatomegaly, and hepatitis, iron overload can also cause endocrine dysfunction, especially affecting the pancreas, testes, and thyroid.  Transfusion-associated viral hepatits resulting in cirrhosis or portal hypertension also may be seen.
  • 30. Surgical Treatment Splenectomy- decrease transfusion requirements Cholecystectomy- Patients with thalassemia minor may have bilirubin stones in their gallbladder and, if symptomatic, may require treatment. Perform a cholecystectomy using a laparoscope or carry out the procedure at the same time as the splenectomy.
  • 31. TREATMENT Treatment for beta thalassemia involves iron chelation. 1. Deferoxamine 2. Deferasirox
  • 32. CURATIVE METHOD BMT FROM COMPATIBLE BMT FROM HAPLOIDENTICAL DONOR MOTHER TO CHILD  Free survival 87%  Free survival 70%  Rejection 10%  Rejection 23%  Mortality 3%  Mortality 7 %
  • 34. References  American College of Obstetricians and Gynecologists (ACOG). Hemoglobinopathies in Pregnancy. ACOG Practice Bulletin, number 78, January 2007.  Beta Thalassemia. (Sept 2, 2011). Retrieved from http://emedicine.medscape.com/article/206490-overview  Bleibel, S. et al. Thalassemia, Alpha. Retrieved: 29 September, 2011 from http://emedicine.medscape.com/article/206397-overview#a0104  Cohen, A.R., et al. Thalassemia. Hematology 2004, American Society of Hematology, pages 14-34.  Cooley’s Anemia Foundation. About Thalassemia. Updated 2007.  Cunningham, M.J. Update on Thalassemia: Clinical Care and Complications. Pediatric Clinics of North America, volume 55, April 2008, pages 447-460.  Deferoxamine [Pharm GKB]. (n.d.). Retrieved from http://www.pharmgkb.org/do/serve?objId=PA164746490&objCls=Drug#tabview=tab1  Di Bartolomeo, P., et al. Long-term Results of Survival in Patients with Thalassemia Major Treated with Bone Marrow Transplantation. American Journal of Hematology, February 13, 2008 (Epub ahead of print).  Exjade (Deferasirox) Drug Information… (Aug 19, 2011). Retrieved from http://www.rxlist.com/exjade-drug.htm  Food and Drug Administration (FDA). FDA Approves First Oral Drug for Chronic Iron Overload. FDA News, November 9, 2005  Food and Drug Administration (FDA). FDA Approves First Oral Drug for Chronic Iron Overload. FDA News, November 9, 2005.  Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital; and David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., Review Date: 1/31/2010,Thalassemia, retrieved on 2011-09-30, http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001613/  Lucile Packard Children’s Hospital at Standford. 2011. Alpha Thalassemia. Retrieved: 29 September, 2011 from http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/hematology/thalapth.htmlth

Notas del editor

  1. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin.
  2. Major -usually appears in an infant after three months of age and causes life-threatening anemia
  3. Ineffective erythropoiesis is the active erythropoiesis with premature death of created red blood cells RBCs, a decreased output of red blood cells from the bone marrow and consequently anemia.Extramedullary hematopoiesis refers to hematopoiesis(formation of blood cellular components) occurring outside of the medulla of the bone.Erythroid hyperplasia is excessive growth of immature red blood cells.Hepatomegaly is the condition of having an enlarged liver
  4. Chronic hepatitis is the inflammation of the liver and characterized by the presence of inflammatory cells in the tissue of the organ.Splenomegaly is the enlargement of the spleenExtravascular hemolysis occurs when RBCs are phagocytized by macrophages in the spleen, liver and bone marrow.portal hypertension is hypertension (high blood pressure) in the portal vein and its tributaries