Download to read offline
![THALASEMIA definition and pathophysiologyd].pptx](https://cdn.slidesharecdn.com/ss_thumbnails/thalasemia-240515044127-8ce804c5-thumbnail.jpg?width=640&height=640&fit=bounds)
thalassemia.pptx for dental students ppt
- 1. THALASSEMIA Guided by :dranita mam and dr divya mam Presented by : Vaishnavi (21D2993)
- 2. DEFINITION • Thalassemia isa genetic blood disorder that affects the body’s ability to produce hemoglobin and healthy red blood cells. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. When hemoglobin production is impaired, oxygen delivery to tissues is reduced, leading to anemia and related complications. • Thalassemia is inherited, meaning it is passed from parents to children through genes. It occurs due to mutations or deletions in the genes responsible for making the globin chains (alpha or beta) that form hemoglobin.
- 4. • Depending onwhich part is affected, • thalassemia is classified as: I. Alpha Thalassemia: Caused by mutations in the alpha-globin genes. II. Beta Thalassemia: Caused by mutations in the beta-globin genes. People with thalassemia may have: •Mild anemia with few or no symptoms (thalassemia trait or minor), or •Severe, life-threatening anemia requiring regular blood transfusions (thalassemia major).
- 5. • It ismost common in parts of the world where malaria was historically prevalent, such as: The Mediterranean region (e.g., Italy, Greece) Middle East South Asia (e.g., India, Pakistan) Southeast Asia Africa
- 6. CLINICAL FEATURES OFTHALASSEMIA • The clinical features vary depending on the type and severity of the condition. • Two types of thalassemia: • Thalassemia Major (Cooley’s Anemia), • Thalassemia minor are often asymptomatic or have very mild symptoms.
- 7.
- 8. GENERAL SYMPTOMS (SEENIN MODERATE TO SEVERE CASES): • Chronic anemia – persistent fatigue, weakness, and tiredness • Pallor (pale skin) – due to reduced red blood cell count • Jaundice (yellowish skin and eyes) – from rapid breakdown of abnormal red blood cells • Dark-colored urine – due to excessive hemoglobin breakdown
- 9. GROWTH AND DEVELOPMENTALPROBLEMS: • Delayed growth and puberty • Poor appetite and irritability (in children) • Failure to thrive in infants
- 10. SKELETAL AND FACIALCHANGES (IN UNTREATED SEVERE CASES): •Bone deformities, especially in the face and skull •Frontal bossing (prominent forehead) •Depressed nasal bridge •Maxillary overgrowth (enlarged upper jaw) – due to bone marrow expansion •Brittle or thin bones (osteopenia/osteoporosis)
- 11. ORGAN ENLARGEMENT: •Splenomegaly –enlargement of the spleen •Hepatomegaly – enlargement of the liver •Abdominal swelling or discomfort due to organ enlargement
- 12. CARDIOVASCULAR AND OTHERCOMPLICATIONS (DUE TO IRON OVERLOAD): • Heart problems – arrhythmia, heart failure • Liver damage – cirrhosis or fibrosis • Endocrine disorders – diabetes, hypothyroidism • Delayed sexual development – due to hormonal imbalance
- 13. MILD OR ASYMPTOMATICCASES (THALASSEMIA TRAIT/MINOR): •Often no visible symptoms •May show mild anemia or fatigue •Detected during routine blood tests or genetic screening
- 14. TYPES OF THALASSEMIA 1.Alpha Thalassemia • Caused by mutations or deletions in the alpha-globin genes on chromosome 16. • Normally, a person has four alpha-globin genes (two from each parent). • The severity depends on how many genes are affected:
- 15. Type Genes Affected Genotype Hemoglobin Abnormality Clinical Features Silent Carrier 1gene deletion –α/αα Normal No symptoms; detected by genetic testing Alpha Thalassemia Trait 2 gene deletions –α/–α or ––/αα Mild decrease in HbA Mild microcytic anemia; often mistaken for IDA Hemoglobin H Disease 3 gene deletions ––/–α HbH (β ) ₄ Moderate to severe anemia; splenomegaly; fatigue Hydrops Fetalis 4 gene deletions ––/–– Hb Bart’s (γ ) ₄ Usually fatal in utero or at birth; severe anemia
- 17. 2. Beta Thalassemia •Caused by mutations in the beta-globin genes on chromosome 11. • Normally, a person has two beta-globin genes (one from each parent). • The severity depends on whether the mutations reduce (β ) ⁺ or eliminate (β ) ⁰ beta-globin production.
- 19. Type Inheritance Symptoms BetaThalassemia Minor (Trait) One gene mutated (carrier) Usually asymptomatic or mild anemia Beta Thalassemia Intermedia Both genes mutated (milder mutations) Moderate anemia, may need occasional transfusions Beta Thalassemia Major (Cooley’s Anemia) Both genes mutated (severe form) Severe anemia, requires regular transfusions from early childhood Types of Beta Thalassemia:
- 20. DIFFERENCES BETWEEN ALPHAAND BETA THALASSEMIA Feature Alpha Thalassemia Beta Thalassemia Affected Gene Alpha-globin (chromosome 16) Beta-globin (chromosome 11) Number of Genes 4 alpha-globin genes 2 beta-globin genes Severity by Gene Loss Severity increases with more deletions Severity based on mutation combination Geographic Prevalence Southeast Asia, Africa, India Mediterranean, Middle East, India
- 21. DIAGNOSIS OF THALASSEMIA •Diagnosis of thalassemia involves a combination of clinical evaluation, blood tests, and genetic testing to determine the type and severity of the disorder. 1. Complete Blood Count (CBC) • Initial screening test for anemia • Reveals: • Low hemoglobin levels • Microcytosis (small red blood cells) • Hypochromia (pale red cells) • Reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH)
- 22. 2. Peripheral BloodSmear • Examines the shape and size of red blood cells under a microscope • Findings may include: • Target cells • Nucleated RBCs • Basophilic stippling
- 23. 3. Hemoglobin Electrophoresis •Identifies the types and proportions of hemoglobin in the blood • Useful in detecting: • Increased HbA2 and HbF (common in Beta Thalassemia) • Abnormal hemoglobin patterns • Not reliable for Alpha Thalassemia (Hb electrophoresis often normal in trait carriers)
- 24. • 4. High-PerformanceLiquid Chromatography (HPLC) • More precise and widely used method for hemoglobin quantification • Detects abnormal hemoglobins and quantifies HbA2 and HbF levels • 5. Genetic Testing / DNA Analysis • Confirms the specific mutations in alpha or beta globin genes • Used to: • Confirm diagnosis • Distinguish between carrier and disease • Guide family planning and prenatal testing
- 25. 6.Prenatal Diagnosis • Performedif parents are known carriers • Techniques: • Chorionic Villus Sampling (CVS) – done in the first trimester • Amniocentesis – done in the second trimester • Analyzes fetal DNA for thalassemia mutations 7. Iron Studies •Helps to differentiate thalassemia from iron deficiency anemia •Includes serum ferritin, transferrin saturation, and total iron-binding capacity (TIBC)
- 26. Skeletal Abnormalities: •Bone marrowexpansion: The medullary spaces widen due to the increased production of red blood cells, causing thinning of the outer bone layer (cortex). •Osteoporosis: The overall bone density decreases due to the loss of bone mass. •Growth retardation: In severe cases, thalassemia can affect bone growth, leading to shorter stature. •Vertebral body changes: The vertebral bodies can show a "hair-on-end" appearance due to the thickening of vertical trabeculae (bony strands) and a "biconcave" or "fish vertebrae" shape. •Other skeletal changes: Skeletal dysplasia can also occur, including irregularities in the growth plate (physeal-metaphyseal junction) and splaying or coarsening of the metaphysis (the wider part of the bone near the growth plate) RADIOGRAPHIC FINDINGS
- 27. •Hair-on-end appearance: Theskull shows vertical striations due to the expansion of the diploic space (the spongy layer within the skull) and the thickening of trabeculae.
- 28. Thickening ofthe frontal bone, thinned mandibular cortex, maxillary sinus hypoplasia, and delayed dental development are often seen on radiographs A thalassemic pt with malocclusion A case report of thalassemic pt with mandibular changes
- 29. TREATMENT OF THALASSEMIA •The treatment of thalassemia depends on the type and severity of the disease. While carriers (minor) may need no treatment, moderate to severe forms like thalassemia intermedia and thalassemia major require lifelong medical care. 1. Regular Blood Transfusions • Main treatment for thalassemia major • Helps maintain normal hemoglobin levels and control symptoms • Typically needed every 2 to 4 weeks • Risks include iron overload and transmission of infections (though rare with screened blood)
- 30. 2. Iron ChelationTherapy • Removes excess iron from the body caused by frequent transfusions • Prevents damage to the heart, liver, and endocrine glands • Common iron chelators: • Deferoxamine (Desferal) – injectable • Deferasirox (Exjade) – oral • Deferiprone (Ferriprox) – oral
- 31. 3. Folic AcidSupplements • Supports red blood cell production • Helps combat mild anemia in thalassemia intermedia and minor • 4. Bone Marrow / Stem Cell Transplantation • Only curative option for thalassemia major • Most successful in young children with a matched donor • Carries risks like graft-versus-host disease and rejection
- 32. 5. Gene Therapy(Emerging Treatment) • Experimental but promising treatment • Involves inserting a healthy beta-globin gene into the patient’s bone marrow cells • Ongoing clinical trials show positive results 6. Supportive and Preventive Care • Vaccinations (Hepatitis B, pneumococcal, meningococcal) • Monitoring for complications (heart, liver, bones, hormones) • Psychological support and counseling • Growth monitoring in children
- 33. Treatment Type PurposeUsed For Blood Transfusions Increases hemoglobin levels Thalassemia Major Iron Chelation Therapy Removes excess iron from body After multiple transfusions Folic Acid Supplement Supports RBC production Minor & Intermedia Bone Marrow Transplant Curative option Severe cases (usually children) Gene Therapy Experimental cure Severe cases (trial stage) Vaccinations & Monitoring Prevent infections and complications All types
- 34.