Hemoglobinopathies Flashcards

1
Q

This disease is diagnosable during the 2nd half of first year of life

A

Sickle Cell Anemia

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2
Q

What are the adult tetramers of Hb.

A

Hb alpha2, beta2, Hb delta2, alpha2

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3
Q

Fetal Hb tetramers

A

Hb gamma2, alpha2

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4
Q

Hb Portland tetramers

A

Hb gamma2, zeta2

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5
Q

HbS amino acid switch

A

Glu»»Val at 6th A.A.

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6
Q

HbS tetramers

A

Hb alpha2, BetaS2

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7
Q

Symptoms of HbSS in order to diagnose

A

palor, failure to thrive, repeated infections, splenomegaly

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8
Q

Painful Episode of HbSS symptoms

A

infarction of tissue, backup of RBCs in spleen, severe anemia

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9
Q

Chronic Painful Episodes of HbSS lead to

A

chronic infections, organ malfunction, pigmented gallstones, increased fetal mortality in mothers with HbSS

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10
Q

What state of Hb will HbSS sickle in?

A

T state (relaxed state)

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11
Q

What advantage do individuals with HbSA have?

A

heterozygote advantage, lower malaria risk

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12
Q

Beta-Thalesseamia results from

A

single base substitution, large deletions, insertions

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13
Q

initial presentation of Beta-Thal

A

severe hemolytic anemia, many reticulocytes, microcytic, hypochromatic

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14
Q

what age is Beta-Thal diagnoasble

A

around 2 years of age

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15
Q

Progression of Beta-Thal Major untreated

A

growth retardation, genu valgum, jaundice, hepatosplenomegaly, “chipmunk-face”

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16
Q

Treatment for Beta-Thal Major

A

Blood Transfusions and chelation therapy

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17
Q

Why chelation therapy given to patient for Beta-Thal?

A

iron overloading, patient must watch ferritin levels

18
Q

Drugs used for Tx of Beta-Thal Major

A

Desferrioxamine (IV-subcu)

oral Deferasirox

19
Q

What is the cure for Beta-Thal?

A

Bone marrow transplant

20
Q

Cause of Beta-Thal intermedia

A

reduced beta Hb less than 50% of normal

21
Q

Symptoms associated with beta-Thal Intermedia

A

splenomegaly, gall stones, iron overload, variable anemia

22
Q

Does a patient with beta-thal intermedia require routine blood transfusions

23
Q

Beta-Thal minor

A

production of Hb-beta is above 50% of normal

24
Q

Treatment for Beta-thal minor

A

asymptotic no treatment-mild microcytic, hypo chromatic anemia

25
Genetics of beta-thal major
Hb beta0, beta0 or Hb beta+, beta0
26
Genetics of beta-thal intermedia
Hb beta+, beta+
27
In beta-thal disease will there be a production of homo-tetramers?
no, lack of beta surplus of alpha
28
In beta-thal, will there be precipitate of alpha ?
yes
29
Alpha-Thalassemia 1
Allele B , Asians
30
Alpha-Thal 2
Allele A, Africans and Asians
31
What chromosome is altered for alpha-thal?
chromosome 16
32
Silent Carrier of alpha-thal
deletion of beta 2
33
Alpha-Thal trait
deletion of beta 2, alpha 2 | beta 1, beta 2
34
Hb H disease
everything deleted except alpha 1
35
Hb Barth's disease
Everything deleted
36
Hb H disease genetics and what is present at the baby's birth in Hb H disease
Hb beta 4 protein and barths protein (Hb-gamma 4)
37
Hb Barth's protein is main type present in
Hb Portland (Hb zeta2, gamma 2)
38
Will you from homo-tetramers in Hb H disease
yes, beta 4 and gamma Hb chains (completed absence of alpha chains)
39
HbE and HbC have changes made on what allele
beta allele
40
HbE changes from what to what (genetics)
on 26th A.A, Glu>>>>Lys
41
Hb AE will provide some protection against
P. falciparum malaria
42
Beta-Thal/HbS will present with what symptoms
Symptoms of Sickle Cell disease