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MINI 4 > Hemoglobinopathies > Flashcards

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

A

No

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
Q

Genetics of beta-thal major

A

Hb beta0, beta0 or Hb beta+, beta0

26
Q

Genetics of beta-thal intermedia

A

Hb beta+, beta+

27
Q

In beta-thal disease will there be a production of homo-tetramers?

A

no, lack of beta surplus of alpha

28
Q

In beta-thal, will there be precipitate of alpha ?

A

yes

29
Q

Alpha-Thalassemia 1

A

Allele B , Asians

30
Q

Alpha-Thal 2

A

Allele A, Africans and Asians

31
Q

What chromosome is altered for alpha-thal?

A

chromosome 16

32
Q

Silent Carrier of alpha-thal

A

deletion of beta 2

33
Q

Alpha-Thal trait

A

deletion of beta 2, alpha 2

beta 1, beta 2

34
Q

Hb H disease

A

everything deleted except alpha 1

35
Q

Hb Barth’s disease

A

Everything deleted

36
Q

Hb H disease genetics and what is present at the baby’s birth in Hb H disease

A

Hb beta 4 protein and barths protein (Hb-gamma 4)

37
Q

Hb Barth’s protein is main type present in

A

Hb Portland (Hb zeta2, gamma 2)

38
Q

Will you from homo-tetramers in Hb H disease

A

yes, beta 4 and gamma Hb chains (completed absence of alpha chains)

39
Q

HbE and HbC have changes made on what allele

A

beta allele

40
Q

HbE changes from what to what (genetics)

A

on 26th A.A, Glu»»Lys

41
Q

Hb AE will provide some protection against

A

P. falciparum malaria

42
Q

Beta-Thal/HbS will present with what symptoms

A

Symptoms of Sickle Cell disease

MINI 4 (23 decks)

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