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Non-Transfusion-Dependent Thalassemia

Non-Transfusion-Dependent Thalassemia. Ashutosh Lal, MD Northern California Thalassemia Center UCSF Benioff Children’s Hospital Oakland. Thalassemia Syndromes: Many diagnoses. Oakland Data (n=203). What is the proportion of non-transfusion-dependent thalassemia.

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Non-Transfusion-Dependent Thalassemia

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  1. Non-Transfusion-Dependent Thalassemia Ashutosh Lal, MD Northern California Thalassemia Center UCSF Benioff Children’s Hospital Oakland

  2. Thalassemia Syndromes: Many diagnoses • Oakland Data (n=203)

  3. What is the proportion of non-transfusion-dependent thalassemia • Not a true representation of NTDT • The real number of non-transfused patients is likely 5-10 times n=203, Oakland data

  4. Oakland data

  5. Thalassemia Syndromes: a continuum

  6. Causes of Non-Transfusion Dependent Thalassemia

  7. Transfusion Requirement Oakland data

  8. Beta-thalassemia intermedia: Evolving Management

  9. E-Beta0Thalassemia • 11 years old, diagnosed with E beta thalassemia at 2 years • Well during infancy • Sick as toddler frequent ER visits for fever; pneumonia • School: Tired compared with peers, needs frequent rest, chooses less active play • 3 transfusions in one winter: fall in hemoglobin during infections • Baseline hemoglobin from 5.8 to 6.5 g/dL • No response to HU • Started on regular transfusions at 6 years E-Beta0 Thalassemia plus alpha0 trait • Younger brother 8 years old • Hemoglobin level 9.8 g/dl • Asymptomatic

  10. Heterozygous Beta thalassemia intermedia • Now 36 years old: Dx at 8 months: a little pale, fatigued, poor appetite • Baseline hemoglobin level 7.5 to 9 g/dL • First transfusion at 18 years for aplastic crisis. • Cholecystectomy at 22 years, transfusion prior to surgery • Pregnancy at 34 years, hemoglobin dropped from 7 to 4 g/dL, transfused intermittently during pregnancy • Liver 4 cm, Spleen 8 cm • Hemoglobin6.9 g/dL • Ferritin 1830; Liver iron concentration 31.2 mg/g dry-wt • Electrophoresis: Hb A2: 4.8%, Hb F 1.2%

  11. HbHConstant Spring Age in years Transfusion Events

  12. Comparison with Thalassemia Major More in thalassemia major More in non-transfusion dependent thalassemia Anemia Sudden fall in hemoglobin Extramedullary masses Splenomegaly Pulmonary hypertension Thrombosis Leg ulcers Silent Cerebral Infarction • Iron overload • Early need for effective chelation • Consequences of iron overload • Endocrinopathies • Hypogonadism • Osteoporosis • Heart disease • Liver disease • Transfusion-transmitted infections • Hospital visits

  13. Clinical Management Guidelines Oakland Standards of Care

  14. The initial clinic visit

  15. Montioring • Frequency of visits • Initially every month, then 2 months, then 3-12 months • Growth • Height and weight, pubertal development • Nutrition • Folate, vitamin D, avoiding supplemental iron • Counseling for risk during infections • Building relationship • Accessibility, social work assessment, diagnosis card

  16. Management of Fever

  17. Options for treatment

  18. Splenectomy • Splenectomy is NOT recommended as a means to delay or prevent the need for regular transfusions • Hb H Constant Spring is an exception E Beta Thalassemia Oakland data

  19. Hydroxyurea •  Benefit of Hydroxyurea is uneven • Certain mutations predict better response to hydroxyurea • XmnI polymorphism • Leporeor δβ-thalassemia • Patients with extramedullary pseudotumors • Hydroxyurea starting dose of 10 mg/kg/day, not exceeding 20 mg/kg/day • Response evaluated after 3 and 6 months of therapy • Hemoglobin level increase of >1 g/dl at 6 months • Discontinue in patients not showing response

  20. Specific Management: Assessing the need for transfusions

  21. Transfusion therapy: When to transfuse

  22. Iron Overload • Development of iron overload is inevitable, irrespective of transfusion status • Extra iron is absorbed from food • Iron deposition is cumulative and age-dependent • Serum ferritin under-estimates the liver iron • Cardiac iron deposition less common • Liver damage • Hormone deficiencies Oakland data: NTDT patients

  23. Assessment of Iron Overload • Measure serum ferritin • Measure liver iron concentration when ferritin >300 ng/mL • Measure cardiac iron if LIC >15 mg/g • Evaluate for hormone deficiencies Treatment of Iron Overload • Non-transfused patients >10 years with ferritin >300 ng/mL and LIC >5 mg/g • Earlier for intermittently transfused patients • Deferasirox is the preferred chelators • Dose is 50% of that used for thalassemia major • Goal: reduce ferritin <200 ng/mL, LIC <5 • Stop therapy, resume monitoring

  24. Fertility • Fertility is usually not affected • Genetic Counseling: Partner testing is essential Pregnancy • Pregnancy: Consider transfusions during pregnancy when hemoglobin <8 g/dL Quality of Life • Monitored for deterioration in QOLwith age • Chronic fatigue, difficulty in coping at work • Family stress • Chronic pain • Psychosocial assessment, support and counseling Barriers to Care • Lack of regular follow up • Lack of evaluation at Comprehensive Thalassemia Center • Lack of medical insurance

  25. Northern California Comprehensive Thalassemia Center

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