Diseases Flashcards
Carbon Monoxide Poisoning
CO has a 250 fold greater affinity for Hb than O2
Treated through 100% or hyperbaric O2
Histidine is the AA that prevents CO binding normally
Diabetes and Hb
Diabetes patients have a 3 fold higher [HbAc]
Sickle Cell Anemia
HbS 6Glu to Val
HbC 6Glu to Lys
Autosomal Recessive
Deoxy >sickling >V.O >Hemolysis >local ischemia, necrosis
Sickle Cell Treatment
HbF transfusion or Hydroxyurea Butyrate Bone marrow therapy Stem cell therapy Gene therapy-CRISPR
Methemoglobinemia
Non-functional oxidized Hb
Induced by antibiotics, mutations (Hyde Park), and Inheritence
Dyskeratosis Congenital
Reduced Telomerase Activity
Affects cells in highly proliferative tissues
-hair
-skin
-bone marrow progenitor cells»death to to failure to produce
Hutchinson Gilford Progeria
Decreased telomere activity
Advanced aging, die of MI before 20
Werners Syndrome
Mutation in WRN gene coding for Helicase involved in BER
Premature aging
Genetic instability
Xeromenta Pigmentosum (XP)
Inherited defects in GG-NER pathway
Extreme UV sensitivity, skin cancer
Mutations in XPE, XPC, XPD, XPA
Cockayne Syndrome
Inherited defect causing mutation in the TC-NER pathway
Neurological, developmental issues
Mutation in CSA, CSB
Sun sensitive, but no cancer
Ataxia Occulomotor Apraxia (AOA1)
Autosomal recessive
Caused by defect (mutation) in SSB repair at APTX gene
Looks like AT without immune issues and telangiesta
Neuropathy including movement and vision
Ataxia Telegiectasia (AT)
Autosomal Recessive
Immune deficiencies
Issue in DSB repair which causes ATM deficiency
Sideroblastic Anemia
Hypochromism
Microcytism
Sideroblasts-excessive Fe in mitochondria
Lead Poisoning
Inhibits ALAD, Ferrochelatase, Pyrimidine 5’ Nucleotidase
Gingival and long bone lead line
ALA, ZPP accumulation, basophilic stippling
Acute Intermittent Porphyria (AIP)
Defect in PBGD Due to 4 M's Neurovisceral symptoms Decrease [heme] PBG > porobilin > port wine urine Need glucose, heme/hematin
Porphyria Cutea Tarda (PCT)
Most common
Defect in UROD
Alcohol, Hep B/C, HIV, sunlight, Hepatic Fe overload
Present bullae, sclerodermoid plaque on scalp
Coral fluorescence of urine, UROD assay
Remove environmental exposures, sunscreen, phlebotomy, Fe chelation
Erythropoietic Protoporphyria (EPP)
Ferrochelatase mutation
Autosomal dominant
Cutaneous photosensitive
Chronic liver disease later in life
Rhett Syndrome
Autism spectrum disorder
Gene mutation
MECP2 mutation
Prayer-Willi Syndrome
Mental retardation
Hyperphagia
Angelman Syndrome
Excessive Laughter
Seizures
Mental Retardation
A-Thalassemia (aa–)
Trait
Mild anemia
Microcytosis
A-Thalassemia (a—)
HbH (B4) disease
Moderately sever, hemolytic anemia
A-Thalassemia (—-)
Bart’s Disease (y4)
Hydros fetalis
Death
A-Thalassemia causes
Deletion on A-globin genes
LCR deletions
