thalassemia & bleeding disorders
Post on 28-Apr-2015
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Thalassemia
Presenter: Abdul MushibINTERNAL MEDICINE
• Inherited autosomal recessive blood disorders• mutation or deletion• results in reduced rate of synthesis or no
synthesis of one of the globin chains that make up hemoglobin
• two major forms of the disease, alpha- and beta
Epidemiology
• Mediterranean origin, Arabs, and Asians• Bangladesh, China, India, Malaysia and
Pakistan.
Pathophysiology
• Normal hemoglobin is composed of four protein chains, two α and two β globin chains
• Thalassemia patients produce a deficiency of either α (16) or β (11) globin
• Unmatched globins precipitate, damaging RBC membranes causing hemolysis while still in marrow.
Beta Thalassaemias
• Point mutation leading to dec B chain production or no B chain production.
1_B T Minor: carrier state Asymptomatic or Mild well tolerated anemia Hb >9 Anemia worsen in pregnancy Often confused with Fe Deficiency
Anemia
2-B T Intermedia
Moderate anemia No transfusions Splenomegaly
3- B T Major (Cooleys Anaemia)Abnormalties in both B globulinsPresents in 1st year with severe anemia & failure to thrive.RBC forms outside the marrow causing cahacteristic headshape.
Skull bossing. Hepatosplenomegaly (due to Hemolysis) OsteopeniaLife long blood transfusions are needed.Iron overload/depositionFilm Show: very Hypochromic, microcytic cells+ target cells +
nucleated RBC.
RX
• Promote fitness, healthy diet, folate supps.• Regular (2-4 wkly) transfusions to keep Hb >9
to suppress extramedullary hematopoiesis• Iron chelators (Deferiprone)• Vit c- inc Urinary secretion of Fe• Hormal Rx of Dm, Hypo.• Histocompatable marrow transplant
Alpha T
• There are 4 genes• Mainly by gene deletions• If all 4 alpha delettion-death in utero (Barts
Hydrops)• Other features 3 genes deleted then:• Moderate anemia, hemolysis,
hepatosplenomagaly• 2 genes deleted: asymptomatic carrier• 1 gene deleted: clinical state is normal.
DX
• FBC• MCV• Iron• HB electrophoresis• Film
BLEEDING DISORDERS
• After injury 3 processors halt bleeding:
• 1-Vaso-constriction• 2-Gap-Plugging by platelets• 3-Coagualtion Cascade
Bleeding DisordersIs pattern of bleeding important?
• Prolonged bleeding from cuts
• easy bruising- purpura• epistaxis• gums• menorrhagia
VASCULAR & PLATELET DISORDERS
• Delayed bleeding into• Joints• Muscles
COAGULATION DISORDERS
• After injury 3 processors halt bleeding:
• 1-Vaso-constriction VASCULAR DEFECTS• 2-Gap-Plugging by platelets PLATELET DISORD• 3-Coagualtion Cascade COAGULATION DISORD
1-Vaso-constriction VASCULAR DEFECTS
• Congenital (connective tissue disease)Ehlers Danlos, Osler Weber Rendu Syndrome
2-Gap-Plugging by platelets PLATELET DISORDER
Decreased Production• Marrow Hypoplasia
(aplastic anemias, Fanconi’s Anemia)
• Marrow infiltration (Leukemia, myeloma
• Cytotoxic Drugs• Hematinic Deficiency (V
B12/folate)• Familial (Alports, Benard
Soulier Disease)
Increased consumption• Immune mechnisms (ITP,
Drug associated-quinnine)• Coagulation Activation (DIC)• Mechnical pooling
(hypersplenism)• Thrombotic
microangiopathies (Liver disease, Hemolytic Uraemic syndrome
• OTHERS (Von willie)
3-Coagualtion Cascade COAGULATION DISORDER
COngenital• Haemophilia• Von Willebrands
Acquired• Anticoagulants• Liver disease• DIC• Vitamin K defiecy
Approach to Bleeding
• QUESTION 1Is there an emergency?• QUESTION 2Why is the Px bleeding• QUESTION 3What is mechnism of bleeding
Is there an emergency?
• Is px dizzy, in shock, coma?• Is there hypovolemia (P Hypo, Oliguria)• Is there CNS bleeding (meningism, retinal
signs)• Underlying condition that is gonna be affected
eg Pregnancy
Why is the Px bleeding
• Is bleeding Normal ? (surgery, trauma or is it a bleeding disorder?
• Is there secondary cause? (drug (W), liver disease, sepsis?
• Past Family HX?• Pattern of bleeding?
What is mechnism of bleeding
• To help find answers do:FBCBlood FlimCoagulation profileSeptic Screeening
MX
• Depends on degree of bleeding• If shock_recucitate• FFP• Platelets• ITP: Steroids + Imunoglobulins
The End
DISCUSSION
Referance
• Oxford Handbook of clinical Medicine.• Davidson’s Principles of Internal Medicine.
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