Diseases Of Hemoglobin

Question 1

Carbon Monoxide POisoning

Answer 1

Co has a greater affinity for heme than does O2. This property is controlled slightly by Heme binding to the Hb.

When exposed to high [CO], the blood is poisoned.

Discoloration (red) of skin and organs. Treated by 100% [O2]

Question 2

GLycation of Hb

Answer 2

Glucose binds to HbA1c without enzyme.

This occurs when blood sugar levels are high.

Irreversible- must make new cell

Question 3

Sickle Cell anemia- clinical presentation/symptoms

Answer 3

Anemia, painful joints, kidney and spleen damage, frequent hospitalization, fever

Ischemia

Question 4

Sickle Cell Anemia- genetic basis

Answer 4

Autosomal recessive.
Substitutes Glu 6 with Val. In the B globin.

Must have both genes. Only 1 gene means carrier, mostly a symptomatic.

Question 5

Treatments for Sickle Cell

Answer 5

Hydroxyurea, penecillin, transfusion, iron chelation, bone marrow transplant, gene therapy.

Question 6

HbC

Answer 6

Glu6–> Lys.

Autosomal recessive.

HbC crystallizes in RBCs, reducing deform ability in capillaries and causing mild hemolytic disorder

Question 7

Chain composition of HbA

Answer 7

2a 2B

Question 8

Chains in HbF

Answer 8

2a, 2y

Question 9

Chains in HbA2

Answer 9

2a, 2d

Question 10

Chains only found in embryo

Answer 10

Z, E.

Question 11

Chains only found in adult

Answer 11

B, d.

Question 12

Chains found in both embryo and adult

Answer 12

Y, a

Question 13

Symptoms of trains a thallsemia

Answer 13

Mild anemia, microcytosis

Question 14

Symptoms of HbH a thallasemia

Answer 14

Moderate hemolytic anemia

Question 15

Symptoms of HbBarts a thallasemia

Answer 15

Death

Severe intrauterine hypoxia, RBC membrane damage, ineffective erythropoeisis.

Question 16

Major B thallasemia symptoms

Answer 16

Microcytosis, severe anemia

Question 17

Minor B thallasemia symptoms

Answer 17

Microcytosis, mild anemia.

Question 18

Committed step of heme synthesis- S-E->P

Answer 18

Succinyl CoA and glycine–(ALA Synthase)–> Aminolevulinic Acid.

Question 19

Allosteric inhibition mechanism in the heme synthesis pathway

Answer 19

Heme, Hemin, Hematin —-] on ALAS

Question 20

Stimulants of ALAS1 in the heme synthesis pathway

Answer 20

Medication
Malnutrition
Menstruation
Maladies

Induce p450 which stimulates ALAS.

Question 21

Lead Exposure symptoms

Answer 21

Lethargy, anorexia, enemies, headache, lead line in bones, neuropathy, convulsions, coma, renal failure, encephalopathy

Question 22

Lead exposure mechanism

Answer 22

Lead inhibits ferrochelatase and ALAD

Fe 2+ cannot bind to heme.

Question 23

Precipitation of Lead poisoning

Answer 23

Exposure to lead in water pipes, old ceramics, reconstruction of old homes.

Question 24

Detection of lead poisoning

Answer 24

Zn Protophyrin in blood, ALA in urine

Question 25

Acute Intermittent Porphyria symptoms

Answer 25

Confusion, abdominal pain, dark red urine, respiratory distress

Question 26

Acute Intermittent Porphyria causes

Answer 26

Autosomal dominant disorder.

[Heme] is decreased, increasing [p450] and reducing inhibition of ALAS. This leads to an accumulation of ALAS.

Question 27

Precipitation of Acute Intermittent Porphyria

Answer 27

bariatric surgery
Stress
Maladies, menstruation, malnutrition, medication

Question 28

Treatment for Acute Intermittent Porphyria

Answer 28

Given Hematin to start the feedback mechanism on ALAS, increasing glucose intake (insulin decreases transcription of ALAS)

Question 29

Porphyria Cutaneous Tarda symptoms

Answer 29

Blisters, builles, purple face skin, plaque on scalp, dark pink urine, milia on skin, extra hair on body, photosensitive

Question 30

Cause of Porphyria Cutaneous Tarda

Answer 30

Hepatitis C may cause it, or genetic deficiency of UROD.

Question 31

Precipitation of Porphyria Cutaneous Tarda

Answer 31

Alcohol abuse, hepatic Fe 2+ overload, exposure to sunlight, HIV, HepB/C, fungiside.

Question 32

Detecting Porphyria Cutaneous Tarda

Answer 32

Blood fluorescent , high levels of porphyrogen in urine.

Question 33

Treatment Porphyria Cutaneous Tarda

Answer 33

Phlebotomy- decreases Fe2+

Sunscreen

Question 34

Erythropoietin Protoporphyria symptoms

Answer 34

Severe photosensitivity
Skin changes
Liver disease

Question 35

Erythropoietin Protoporphyria causes

Answer 35

Mutation in ferrochelatase
Autosomal recessive
Presents in early childhood

Question 36

Erythropoietin Protoporphyria precipitation

Answer 36

Sun exposure