Scribd Logo
Upload

Welcome to Scribd!

  • Mendel Law: Autosomal Recessive

    Uploaded by

    Febri Christallago
    5 views11 pages
    This document discusses thalassemia major, an inherited blood disorder. It notes that thalassemia major is an autosomal recessive condition where both parents are carriers and affected individuals have severe anemia requiring lifelong blood transfusions and chelation therapy to remove excess iron. Treatment involves regular blood transfusions along with chelation therapy using oral or intravenous medications to remove excess iron from previous transfusions.

    Original Description:

    Original Title

    Pedigree Thal

    Copyright

    © © All Rights Reserved

    Available Formats

    PPT, PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    Report this Document
    This document discusses thalassemia major, an inherited blood disorder. It notes that thalassemia major is an autosomal recessive condition where both parents are carriers and affected individuals have severe anemia requiring lifelong blood transfusions and chelation therapy to remove excess iron. Treatment involves regular blood transfusions along with chelation therapy using oral or intravenous medications to remove excess iron from previous transfusions.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    5 views11 pages

    Mendel Law: Autosomal Recessive

    Uploaded by

    Febri Christallago
    This document discusses thalassemia major, an inherited blood disorder. It notes that thalassemia major is an autosomal recessive condition where both parents are carriers and affected individuals have severe anemia requiring lifelong blood transfusions and chelation therapy to remove excess iron. Treatment involves regular blood transfusions along with chelation therapy using oral or intravenous medications to remove excess iron from previous transfusions.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 11

    Carrier

    Thalassemia
    Major
    Normal Carrier
    Parents
    Carrier
    Parents
    Carrier
    Parents
    Carrier
    Parents
    Carrier
    Carrier Normal
    Mendel Law
    Autosomal
    recessive
    Parents
    Thal. Major
    Parents
    Normal



    100% Carrier
    Mendel Law
    Normal
    Death during fetal life
    Hydrops fetalis
    HbH disease
    Mild to severe anemia

    --/-- - -/-

    4
    =HbBart

    4
    =HbH











    Thalassemia-

    Organomegaly Facial changes
    Clinical Features
    Skin Hyperpigmentation
    Radiologic Features
    osteoporosis Hair on end appearance
    Normal peripheral
    blood
    Iron
    deficiency
    Thalassemia major
    Thalassemia
    minor
    DFO
    Pump
    Subcutaneous chelating agent
    8-12 hours/day, 5-7x/week

    Deferiprone (L1) Deferasirox (ICL 670)
    75-100 mg/kgbw/day 20-30 mg/kgbw/day
    Oral chelating agents

    Nutrition
    Reduce the iron absorbed from food
    Food that decrease non meat iron absorption: cereal, tea,
    coffee, spices, diary products
    Food that increase non meat iron absorption: Vit. C,
    seafood, meat, poultry, fish

    Treatment

    You might also like