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Survey of Human Genetic Disorders Second Half > Blood Disorders > Flashcards

Blood Disorders Flashcards

1
Q

What is the lifespan of an RBC?

A

120 days

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2
Q

What organ removes the RBC?

A

Spleen

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3
Q

Where is iron recycled?

A

Liver

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4
Q

What is Hematocrit?

A

Amount of red cells % by volume

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5
Q

What are the lower limits of Hemoglobin in men and women?

A

Lower limits: Men 13 g/dL, women 12 g/dL

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6
Q

What are the percentages of Hematocrit for men and women?

A

Men: 42%, Women 38%

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7
Q

What does a low and high MCV mean?

A

Microcytic – MCV is low
Macrocytic – MCV is high

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8
Q

What is Sideroblastic?

A

immature red cells with unused iron deposits

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9
Q

What is Hypochromic?

A

Cells with low hemoglobin appear pale

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10
Q

What produces bilirubin?

A

When hemoglobin breaks down

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11
Q

What is icterus?

A

Yellowing of eyes

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12
Q

What does increased bilirubin cause?

A

Gallstones and itching

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13
Q

What is one cause of babies having trouble clearing bilirubin?

A

Antibody mismatch with mother

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14
Q

What is fetal hemoglobin (HbF)?

A

Comprised of 2 alpha and two gamma globin chains

Higher affinity for oxygen (has to “steal” oxygen from mother

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15
Q

What is adult hemoglobin made of (HbA)?

A

2 alpha and 2 beta globin chains

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16
Q

What is HbA2 = variant hemoglobin?

A

2 alpha and 2 delta globin chains

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17
Q

What variant causes Sickle Cell Anemia?

A

p.Glu6Val in HBB

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18
Q

What hemoglobin chain is affected by Sickle Cell Anemia?

A

Mutation in Hemoglobin beta chain

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19
Q

What disorder leads to polymerization of hemoglobin under situations of low oxygen tension?

A

Sickle Cell Anemia

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20
Q

What is Vaso-occlusive crisis?

A

Sickle blood cells are more likely to be damaged and to block small blood vessels

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21
Q

What is the carrier rate of Sickle Cell Anemia in African Americans

A

10%

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22
Q

What is the occurrence of Sickle Cell Anemia in AA?

A

1:300-1:500 liveborn rate with sickle cell disease

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23
Q

What accounts for 60-70% of all sickle cell disease

A

Homozygous HbS accounts for 60-70% of all sickle cell disease

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24
Q

What are the compound het types of sickle cell disease?

A

Compound heterozygosity of other abnormal hemoglobins accounts for rest:
-HbS/HbC gives a milder disease phenotype with sickle cells
-HbS/β⁰-thalassemia gives severe phenotype
-HbC/C gives milder symptoms with hemolytic anemia

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25
Q

What are the presentations and complications of Sickle Cell Disease?

A

Acute pain crises
-Hand pain: Dactylitis
-Headaches
-Pain anywhere
-Often with infection
Acute chest
-Vasoocclusion in chest
Chronic hemolysis (jaundice
Gallstones (heme-based)
Splenic enlargement (sequestration)
Strokes and retinal arterial occlusion
Bacterial infections (pneumonia and meningitis)

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26
Q

What is the treatment in Sickle Cell Anemia?

A

Oxygen
Treatment of dehydration and fever
Pain control
Blood transfusion

Bone marrow transplant

Gene therapy in development

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27
Q

What medications prevent Sickle Cell Anemia symptoms?

A

Hydroxyurea reactivates fetal hemoglobin
Glutamine reduces oxidative stress

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28
Q

What is the genetic mechanism in Alpha-thalassemia?

A

Alleles are lost by deletions in alpha locus on Chr 16 (4 total copies)

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29
Q

What is the genotype of an asymptomatic Alpha-thal carrier?

A

Three normal copies
One deletion

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30
Q

What is the phenotype in an Alpha-thal minor person (asymptomatic with mild microcytic anemia)?

A

Deletion of two copies (either in cis or trans)

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31
Q

What is the genotype in an Alpha-thal Hb H person (symptomatic with mild microcytic anemia and splenomegaly)?

A

Three deletions

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32
Q

What is the presentation in an Alpha-thal Hb H person?

A

Symptomatic with mild microcytic anemia
Splenomegaly

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33
Q

What is the phenotype of someone with four missing copies of HBA1/HBA2 (BART)?

A

Incompatible with Life
Hydrops Fetalis

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34
Q

In what population is it more common to have two deleted HBA1/HBA2 loci on the same allele?

A

Southeast Asian

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35
Q

What ethnicities have a higher carrier frequency for Alph-thal?

A

Southeast Asia
Africa
Mediterranean variant

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36
Q

What are the genes involved in Alpha-thal?

A

HBA1 and HBA2

37
Q

What type of globulin tetramer is seen in Bart’s?

A

Since this is a fetal onset disorder, gamma-globulin is seen instead of beta

38
Q

What blood value are you looking at in alpha-thal?

A

MCH and Hb

39
Q

What is the genetic cause of Beta-thalassemia?

A

Autosomal recessive LoF mutations in HBB (beta-globin)

40
Q

What are the symptoms of Beta-thalassemia?

A

Fatigue, lethargy
Anemia
Extramedullary hematopoeisis
Spleen, liver, flat bones
Iron overload

41
Q

What are the blood levels measured in Beta-thalassemia?

A

Hb
MCV
MCH

42
Q

What is a risk with anemia?

A

Iron overload

43
Q

What are the complications of iron overload?

A

Toxic to the liver, heart and pancreas, hormonal dysfunction
Same problems with hemochromatosis, AKA “Bronze diabetes”

44
Q

What is the treatment in thalassemia major?

A

Chelation therapy and limited transfusions

45
Q

What is pancytopenia?

A

Deficiency of all three cellular components of the blood (red cells, white cells, and platelets).

46
Q

What is the clinical triad of Fanconi Anemia?

A
  1. Physical findings
  2. Bone marrow failure
  3. Increased cancer risk
47
Q

What are the three most common genes associated with Fanconi Anemia?

A

FANCA = most common 60-70%
FANCC = 14%
FANCG/XRCC9 = 10%

All three are AR
Everything else at 3% or less

48
Q

What types of Fanconi Anemia are associated with an increased risk of breast and ovarian cancer?

A

FANCD1 = BRCA2
FANCS = BRCA1
FANCN = PALB2

49
Q

What is the biological mechanism of Fanconi Anemia?

A

The body cannot properly produce a protein that protects DNA from damage

50
Q

What are the physical findings in Fanconi Anemia?

A

75 % will show:
- Prenatal and/or postnatal short stature
-Abnormal skin pigmentation (e.g., café au lait macules, hypopigmentation)
-Skeletal malformations (e.g., hypoplastic thumb, hypoplastic radius)
-Microcephaly
-Microophthalmia, cataract, other eye findings
-Genitourinary tract anomalies–horseshoe kidney, abnormal ureters, etc.

51
Q

What are the initial laboratory findings in Fanconi Anemia?

A

Macrocytosis
Increased fetal hemoglobin (often precedes anemia)
Cytopenia (especially thrombocytopenia, leukopenia, and neutropenia)

52
Q

What is the chance of developing bone marrow failure by age 50 in Fanconi Anemia?

A

70% by age 50

53
Q

What are the cancer risks associated with Fanconi Anemia?

A

Acute Myelogenous Leukemia: 13% risk
Myelodysplastic syndrome: 50% by age 50
Solid tumors
-Head and neck squamous cell cancer
-Vulva, esophagus, brain cancer
-Nephroblastoma and neuroblastoma in children
-Higher risk for solid tumors after bone marrow transplant
Gene specific risks
-BRCA1 and BRCA2

54
Q

What is the blood phenotype of Diamond-Blackfan?

A

Macrocytic anemia with onset prior to age one year
No other significant cytopenias
Reticulocytopenia (low response)
Normal marrow cellularity with a paucity of erythroid precursors
No evidence of another acquired or inherited disorder of bone marrow function.

(picture five fingers but no thumbs)

55
Q

What is the general phenotype of Diamond-Blackfan?

A

Anemia (100%)
Craniofacial features (27%)
Upper limb anomalies (16%)
Genitourinary malformations (13%)
Heart defects (11%)
Growth deficiency (30%)
Malignancy (2-5%)

56
Q

What is the most common gene associated with Diamond-Blackfan?

A

RPS19

Most cases are autosomal dominant

Multiple genes related to ribosomal function

57
Q

What are the findings in Spherocytosis?

A

Anemia
Jaundice
Hemolytic crisis
Aplastic crisis (infection)
Pigment stones
Splenomegaly

The RBCs are more fragile than disc-shaped RBCs

58
Q

What is the blood test performed with spherocytosis?

A

Osmotic fragility test

Hypotonic solutions will cause cells to lyse immediately

59
Q

What is the therapy in spherocytosis?

A

Folic acid supplement
Monitor for iron overload
Abdominal ultrasound
-May need splenectomy

60
Q

What are the genes associated with spherocytosis?

A

ANK1
SPTB
SPTA1
SLC4A1
EPB42

61
Q

What is Elliptocytosis?

A

The RBCs assume an elliptical shape, rather than the typical round shape.

62
Q

What are the genes associated with Elliptocytosis?

A

Genes affect the 4.1R complex:

SPTA1
SPTB
EBP41
GPC

63
Q

What is the phenotype of Glucose 6 phosphate dehydrogenase deficiency (G6PD) in the newborn?

A

Prolonged hyperbilirubinemia
-20% of kernicterus assoc. with G6PD
-Kernicterus = bilirubin deposition in the brain, esp. basal ganglia
-Lethargy, poor muscle tone, progressing to brain damage

64
Q

What is the phenotype of Glucose 6 phosphate dehydrogenase deficiency (G6PD) in the adult?

A

Hemolytic anemia
Splenomegaly
Anemia and fatigue
Jaundice

65
Q

What triggers Glucose 6 phosphate dehydrogenase deficiency (G6PD)?

A

Fava beans!
Medications
Anti-malarial drugs
Infections

66
Q

Which ethnicities have a higher occurrence of G6PD?

A

African, Mediterranean, and Asian descent

67
Q

What is the mode of inheritance for G6PD and what type of mutations?

A

X-linked

Point mutations

LoF presumed to be lethal

68
Q

What is the gene associated with Pyruvate Kinase Deficiency and what is the mode of inheritance?

A

PKLR gene
Autosomal recessive

69
Q

What is the phenotype of Pyruvate Kinase Deficiency?

A

Chronic hemolytic anemia (unlike G6PD, which is triggered)

Leads to…
Kernicterus
Anemia
Jaundice
Splenomegaly
Gallstones
Iron overload

70
Q

What is Thrombocytopenia?

A

Platelet count of less than 150K per microliter

71
Q

What are the signs of Thrombocytopenia?

A

Frequent bruising
Nose bleeds
Heavy periods

72
Q

What does TAR stand for?

A

Thrombocytopenia absent radius syndrome

73
Q

What are the findings in TAR syndrome?

A

Absent radius, but thumbs are PRESENT
Thrombocytopenia
-Platelet count below 50 at birth or within first few weeks
-Platelets<50 = risk of brain hemorrhage
-Improves with time—hooray!

Cow’s milk allergy common and makes bleeding worse

Skeletal findings variable
Heart, GU findings at <20%,
Normal IQ and height

74
Q

What is the genetic cause of TAR syndrome?

A

RBM8A
-One null allele (recurrent 200kb deletion which is inherited 75% of time)
-One hypomorphic allele

(Hypomorphic: a mutation that causes a partial loss of gene function)

75
Q

What are the findings in Wiskott-Aldrich syndrome?

A

Congenital thrombocytopenia
Platelet count <70, with low MPV

Immune disorder:
Eczema
Recurrent bacterial or viral infection
Autoimmune disease (including vasculitis)
Malignancy/Lymphoma

76
Q

What is the gene and mechanism associated with Wiskott-Aldrich syndrome?

A

WAS gene
X-linked

Females unaffected

77
Q

What is the genetic cause of Hemophilia A?

A

Deficiency of Factor VIII (1/5000)

X-linked

78
Q

What is the genetic cause of Hemophilia B?

A

Deficiency of Factor IX (1/15000)

X-linked

79
Q

What is the phenotype of Hemophilia A and B?

A

Severe:
Bleeding from mouth injuries
Large hematomas from minor injuries
Spontaneous bleeding into joints and muscle

Moderate:
Prolonged bleeding/oozing after minor trauma

Mild:
Abnormal bleeding with surgery

80
Q

What is the treatment for Hemophilia A and B?

A

Frozen plasma or cryoprecipitate

Replacement therapy: Clotting factor concentrates

81
Q

What are the symptoms in Von Willebrand Disease?

A

Recurrent and prolonged nosebleeds
Bleeding from the gums
Increased menstrual flow
Excessive bleeding from a cut

82
Q

What are the modes of inheritance in Von Willebrand Disease Types I, II, and III

A

Type 1: AD
(Partial quantitative deficiency of essentially normal VWF)

Type 2: AD or AR
(Qualitative deficiency of defective VWF)
-Domain specific (exon 28)

Type 3: AR
(Complete quantitative deficiency of (virtually absent) VWF)
-LoF and deletions

83
Q

What is the treatment in Von Willebrand Disease type I?

A

DDAVP (desmopressin)

84
Q

What are the Porphyrias?

A

A group of conditions in which heme synthesis is impaired

85
Q

What are the symptoms of Porphyrias?

A

Acute types with neurovisceral crises (psychosis, neuropathy, and abdominal pain)

Cutaneous types with photosensitivity, painful rashes and blisters

86
Q

What triggers Porphyrias?

A

Starvation
Drugs

Worse with menstrual cycles

87
Q

What is the treatment for Porphyrias?

A

Acute therapy is IV glucose and hematin (synthetic heme) which shuts down the cycle

88
Q

What are the complications of Porphyria?

A

Liver disease
Cancer
Kidney failure

89
Q

What are the tests for porphyria?

A

Delta-ALA
Porphobilinogens
Urobilinogens (urine test)

Survey of Human Genetic Disorders Second Half (10 decks)

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