Thalassemia Flashcards
Hb Barts is _______, and is an indicator of alpha thalassemia.
gamma4
Hb H is ________, and is an indicator of alpha thalassemia.
beta4
Portland and Gower are both _________.
embryonic hemoglobins present in the first trimester
Quantitative disorders of hemoglobin are called ______, while qualitative disorders are called _______.
thalassemias; hemoglobinopathies
What are four hematologic consequences of thalassemia?
Ineffective erythropoiesis leads to
- anemia
- bone marrow expansion
- extramedullary hematopoiesis
- increased intestinal iron absoprtion
_____ mutations are more common in beta thalassemia, while _______ are more common in alpha thalassemia.
Point; deletions
Underproduction of hemoglobin leads to ________.
- small RBCs
- low MCH and MCHC
- uniform RBC distribution width
- increased RBC production
What are the clinical signs of thalassemia?
- increased hemolysis (raised lactate dehydrogenase and AST)
- splenomegaly
- bilirubin gallstones
- increased reticulocyte count
Alpha-thalassemia trait silent carrier is ______.
- alpha / alpha alpha
Alpha-thalassemia trait is ________.
- / alpha alpha (cis, Asian)
- alpha / - alpha (trans, African)
These are thalassemia minors.
Alpha thalassemia intermedia, also called Hb H, is _________.
- / - alpha
Hydrops fetalis, thalassemia major, is _______.
- / - -
Even though anemia is typically not present in those with alpha-thalassemia trait, ______ usually is.
microcytosis
If you have one normal beta gene, then you have _______.
beta thalassemia trait (the other can be absent, partially present, or beta E)
Beta thalassemia intermedia results from _______.
one or two copies of decreased beta globin
Total lack of beta globin is called ______.
Cooley’s anemia
Those with Cooley’s anemia are at risk for iron overload because ________.
they have increased iron absorption through their intestines and they have to get transfusions once a month
With Cooley’s anemia, clinicians try to maintain a hemoglobin level of ____.
9-10 g/dL
Other than transfusions, those with Cooley’s are given ______.
bone marrow transplants and fetal hemoglobin inducers
Fetal hemoglobin inducers include _______.
hydroxyurea and butyrate
Alpha globin is controlled by chromosome ______, while all other globin chains are on chromosome ______.
16; 11
HbH disease (which is caused by _____) leads to ______ MCV.
- / - a; low
Hb E is ___________.
a point mutation in beta globin that leads to instability of the beta globin chain, resulting in some thalassemia-like symptoms
In electrophoresis, A2 appears in the same band as _____.
Hb E
It is crucial to know if a person is iron deficient before relying on Hb electrophoresis, because _______.
beta-thalassemia trait raises HbA2, but iron deficiency lowers HbA2
Alpha and beta thalassemia traits have ____ RBC, while iron deficiency anemia has _____ RBC.
increased; decreased
Decreased ______ indicates iron deficiency.
ferritin
_______ is the only kind of anemia with increased RDW.
Iron deficiency
Formation of RBCs outside the bone marrow (such as in the ______ or _____), is called ________.
extramedullary hematopoiesis
____ is given to transfusion patients to prevent iron overload.
Deferoxamine (IV in USA), deferiprone (oral Europe), or deferasirox (oral USA preliminarily approved)
