Erythrocyte disorder Flashcards
(104 cards)
1
Q
HEMOGLOBINOPATHIES types
A
- Qualitative
- Quantitative (Thalassemias)
2
Q
QUALITATIVE HEMOGLOBINOPATHIES
A
Sickle Cell Anemia
Hemoglobin C (Hb C)
Hemoglobin E (Hb E)
3
Q
Valine replaces glutamic acid at position 6 on both beta chain
A
Sickle Cell Anemia
4
Q
(ß6 glu→val)
A
Sickle Cell Anemia
5
Q
refers to a group of symptomatic hemoglobinopathies characterized by sickle cell formation
A
Sickle Cell Anemia
6
Q
most common hemoglobinopathy
A
Sickle Cell Anemia
7
Q
Severe hemolytic anemia.
A
Homozygotes (Hb SS)
8
Q
Sickle cell trait, usually asymptomatic but offers some protection against Plasmodium falciparum malaria.
A
Heterozygotes (Hb AS)
9
Q
Polymerization (gelation), leading to deoxygenation and sickling
A
Sickle Cell Anemia
10
Q
Common in individuals of African ancestry
A
Sickle Cell Anemia
11
Q
Protection against P. falciparum
A
Sickle Cell Anemia
12
Q
SS homozygotes experience severe hemolytic anemia
A
Sickle Cell Anemia
13
Q
Sickle Cell Anemia
Clinical Findings
A
- Sickling
- Polymerization of Hb S
- Vaso Occlusion
14
Q
most common non sickling variant
A
Hemoglobin C (Hb C)
15
Q
lysine replaces glutamic acid at position 6 of the beta-globin chain
A
Hemoglobin C (Hb C)
16
Q
(a2ß2 glu→lys)
A
Hemoglobin C (Hb C)
17
Q
Appearance: short and thick crystals
A
Hemoglobin C (Hb C)
18
Q
Lab Findings:
* mild to moderate, normochromic, normocytic anemia
* Hexagonal crystals
*no Hb A is present
A
Hemoglobin C (Hb C)
19
Q
Most common in Southeast Asias
A
Hemoglobin E (Hb E)
20
Q
- lysine replaces glutamic acid at position 26 of the B chain (a2ß2 26Glu→Lys)
A
Hemoglobin E (Hb E)
21
Q
Mutation introduces a cryptic splice site, causing abnormal splicing and decreased transcription of functional mRNA
A
Hemoglobin E (Hb E)
22
Q
Hemoglobin E (Hb E) types
A
Heterozygous (A/E), Homozygous (E/E), Hb E/ß-thalassemia (E/ß)
23
Q
Asymptomatic
A
Heterozygous (A/E)
24
Q
Mild microcytic anemia with decreased erythrocyte survival.
A
Homozygous (E/E)
25
Severe anemia
Hb E/ß-thalassemia (E/ß)
25
an abnormal synthesis rate of globin chains
Thalassemia
26
Decreased a-globin synthesis causing accelerated red cell destruction
α-Thalassemia
27
Excess insoluble a-globin accumulates, leading to severe red cell damage
ß-Thalassemia
28
most common single-gene disorders
Beta-Thalassemia (ß-Thalassemia)
29
is reduced or absent, leading to excess a chains
ß-chain synthesis
30
Decreased total hemoglobin production
Beta-Thalassemia (ß-Thalassemia)
31
Ineffective erythropoiesis. Chronic hemolysis
Beta-Thalassemia (ß-Thalassemia)
32
Precipitation of unstable free α chains → Membrane damage.
Beta-Thalassemia (ß-Thalassemia)
33
Erythrocyte damage
Beta-Thalassemia (ß-Thalassemia)
34
Effects:
* Decreased total hemoglobin production
* Ineffective erythropoiesis. Chronic hemolysis
* Precipitation of unstable free α chains → Membrane damage.
* Erythrocyte damage
Beta-Thalassemia (ß-Thalassemia) Effects
35
Beta-Thalassemia (ß-Thalassemia) variants
Minor (Thalassemia Trait) → Mild anemia
Meior (Cooley's Anemia)
→ Severe anemia
35
No Hgb A can be produced
B - THALASSEMIA MAJOR (Cooley's)
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* Homozygous
B - THALASSEMIA MAJOR (Cooley's)
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* Markedly decreased rate of synthesis or absence of both beta chains results in an excess of alpha chains
B - THALASSEMIA MAJOR (Cooley's)
36
Excess alpha chains precipitate on the RBC membrane → Heinz bodies
B - THALASSEMIA MAJOR (Cooley's)
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Excess alpha chains precipitate on the RBC membrane →
Heinz bodies
38
Typical facies: Frontal bossing, prominent cheekbones, and upper jaw expansion
B - THALASSEMIA MAJOR (Cooley's)
38
Severe microcytic/hypochromic anemia
B - THALASSEMIA MAJOR (Cooley's)
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B - THALASSEMIA MAJOR (Cooley's) Laboratory
Severe microcytic/hypochromic anemia
* Increased hemolysis → Elevated plasma indirect bilirubin, leading to jaundice
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Elevated plasma indirect bilirubin, leading to jaundice
Increased hemolysis
40
Lacy appearance in long bones, "hair on end" skull striations
B - THALASSEMIA MAJOR (Cooley's)
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* Heterozygous
B - THALASSEMIA MINOR
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* Decreased rate of synthesis of one of the beta chains
B - THALASSEMIA MINOR
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Hgb A is slightly decreased
B - THALASSEMIA MINOR
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Mimic mild iron deficiency anemia on a peripheral blood smear
B - THALASSEMIA MINOR
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Laboratory:
* Mild microcytic/hypochromic anemia
* Increased Hb Az
* Decreased MCV
* Poikilocytosis: Target cells, elliptocytes
* Basophilic stippling
B - THALASSEMIA MINOR
45
Mild microcytic/hypochromic anemia
B - THALASSEMIA MINOR
46
Increased Hb Az
B - THALASSEMIA MINOR
47
Decreased MCV
B - THALASSEMIA MINOR
48
Poikilocytosis: Target cells, elliptocytes
B - THALASSEMIA MINOR
49
Basophilic stippling
B - THALASSEMIA MINOR
50
deletions that remove one or both a-globin genes from chromosome 16
Alpha-Thalassemia (α-Thalassemia)
50
Target cells, elliptocytes
Poikilocytosis
51
Types：
* Silent Carrier State
* a-Thalassemia Minor
* Hb H Disease
* Hb Bart Hydrops Fetalis Syndrome
Alpha-Thalassemia (α-Thalassemia)
52
* Deletion of one a-globin gene (-α/αα) is the major cause of the silent carrier state
Silent Carrier
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* Normal α/ß chain ratio
Silent Carrier
54
Diagnosis: No reliable method other than genetic analysis
Silent Carrier
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* No clinical manifestations
Silent Carrier
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Homozygous a°-thalassemia (--/--)
Hb Bart Hydrops Fetalis Syndrome (α-Thalassemia Major)
56
All four alpha genes are deleted; no normal hemoglobins are produced
Hb Bart Hydrops Fetalis Syndrome (α-Thalassemia Major)
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Transfusion-dependent thalassemia
Hb Bart Hydrops Fetalis Syndrome (α-Thalassemia Major)
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0% hemoglobin Bart's (Y4) produced → does not deliver oxygen to tissues
Hb Bart Hydrops Fetalis Syndrome (α-Thalassemia Major)
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80% hemoglobin Bart's (Y4) produced
does not deliver oxygen to tissues
60
Lab diagnosis:
* Severe microcytic, hypochromic anemia
Hb Bart Hydrops Fetalis Syndrome (α-Thalassemia Major)
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* Deletion of two a-globin genes
α-Thalassemia Minor
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* At birth: Hb Bart (Y4) 5%-15%
α-Thalassemia Minor
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In adults: Balanced α/ß chain production→ absent Hb H (ß4)
α-Thalassemia Minor
63
Lab diagnosis:
* Mild microcytic/hypochromic anemia
* Jaundice and hepatosplenomegaly
α-Thalassemia Minor
64
Deletion of three a-globin genes (--/-a), → one functional a-globin gene
Hemoglobin H Disease (α-Thalassemia Intermedia)
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* Excess unpaired ß chains form tetramers of Hb H (ß4) in adults
Hemoglobin H Disease (α-Thalassemia Intermedia)
66
Hemoglobin H (ß4)
-unstable hemoglobin
Hemoglobin H Disease (α-Thalassemia Intermedia)
67
Lab diagnosis:
Moderate microcytic/hypochromic anemia
Hemoglobin H Disease (α-Thalassemia Intermedia)
67
Neoplastic clonal myeloproliferative neoplasm (MPN)
POLYCYTHEMIA VERA
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Erythroid hyperplasia of the bone marrow
-Erythroid, myeloid, and megakaryocytic lineages
POLYCYTHEMIA VERA
68
increase in the total red cell mass in the body
ABSOLUTE
69
Lab diagnosis:
* ↑ Erythrocyte cell count,
* ↑ Hemoglobin
* ↑ Hematocrit
* Normal erythrocytic indices
* Thrombocytosis
POLYCYTHEMIA VERA
69
the total red cell mass is normal, but the Hct is elevated because the plasma volume is decreased
RELATIVE
70
According to WHO standards, the diagnosis of PV requires:
* Three major criteria
* One minor criterion
70
Inherited or acquired disorders resulting from impaired heme synthesis with the accumulation of porphyrin and its precursors
PORPHYRIAS
71
PBG deaminase deficiency
Acute Intermittent Porphyria (AIP)
71
most common acute porphyria
Acute Intermittent Porphyria (AIP)
72
Urine turns dark red upon air/light exposure
Acute Intermittent Porphyria (AIP)
73
Rarest form of porphyria
Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP)
74
Excess ALA alone in urine
Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP)
75
Clinically similar to AIP
Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP)
76
"South African porphyria"
Variegate Porphyria (VP)
77
→ broad spectrum of clinical presentations
"variegate"
78
↓ activity of protoporphyrinogen oxidase
Variegate Porphyria (VP)
79
Most common porphyria in the United States
* ↑ uroporphyrins
80
* Deficient enzyme: Uroporphyrinogen
decarboxylase
Porphyria Cutanea Tarda (PCT)
81
* Seen with Bullous dermatosis
82
* ↑ uroporphyrins
Porphyria Cutanea Tarda (PCT)
83
Cause: Partial deficiency of ferrochelatase
Erythropoietic Protoporphyria (EPP)
84
* Early childhood onset
Erythropoietic Protoporphyria (EPP)
84
* Physical manifestations:
- Erythrodontia
- Needle-like inclusions of porphyrin in circulating RBCs
- Pink-brown deposits in bones.
Congenital Erythropoietic Porphyria (CEP) - Günther Disease
84
* Sun exposure →Painful, itching erythema
Erythropoietic Protoporphyria (EPP)
84
* Normal urine profile
Erythropoietic Protoporphyria (EPP)
84
High severity and early onset
Congenital Erythropoietic Porphyria (CEP) - Günther Disease
84
* Deficient enzyme: Uroporphyrinogen III synthase
Congenital Erythropoietic Porphyria (CEP) - Günther Disease
