Rav Hemo Ck Anemia Talassemia

Front 1

Definition.

Back 1

Definition. The hereditary underproduction of either the alpha or beta globin chains of the
hemoglobin molecule resulting in a hypochromic, microcytic anemia.

Front 2

Etiology.

Back 2

Etiology. Gene deletion results in variable levels of disease.

Front 3

how many genes coding for the
alpha chain of hemoglobin.

Back 3

There are four genes coding for the
alpha chain of hemoglobin. There can be deletions of one, two, three, or all four genes. Beta
thalassemia can be mutated in either one or two genes.

Front 4

geographically Alfa and beta talass

Back 4

Alpha thalassemia is more common in
Asian populations. Beta thalassemia is more common in Mediterranean populations.

Front 5

a talassemia-

Back 5

a talassemia-
decreased Hb synthesis autosomal - recessive

maturation disorder- cytoplasmic maturation defect

decrease alfa globin chain synthesis( gene deletion on chr 16) but betta gamma delta chains are normal
1 gene- silent carrier

2 genes deletion- Afr- Amer and asian types slightly different:
afr-amer- ( a-/a-) one gene deletion on each chromosome
asian- (aa/--) both deletions on the same chromosome ( danger for Bart's disease since fetus could have no alfa globin)

3 gene deletion HbH disease- hemolytic anemia
4 gene deletion Hb Bart's disease dead. spont abortion, increased risk for molar disease

Front 6

betta talassemia
RBC
MCV/RBC ratio
RDW

Back 6

betta talassemia minor ( b/b+) asian black greek italian. mild protective against falcipatum malaria
betta talassemia major- Coley's anemia- hemolytic component

minor - notx
severe- tranfusions.. danger of iron overload and transm of infections

lab test- fe- normal
RBC- normal toincreased
MCV/RBC ratio < 13
RDW normal

Front 7

Clinical Presentation. The presentation is dependent on the number of abnormal genes

Back 7

In
alpha thalassemia one gene deleted yields a normal patient. The CBC is normal, the hemoglobin
level is normal, and the MCV is normal.

Front 8

Clinical Presentation. The presentation is dependent on the number of abnormal genes

Back 8

Individuals with two genes deleted have a
mild anemia with hematocrits ranging from 30-40% with a strikingly low MCV:

Front 9

Clinical Presentation. The presentation is dependent on the number of abnormal genes

Back 9

Those with
three genes deleted have more profound anemia with hematocrits between 22-32% as well
as the very low MCV: In beta thalassemia there is a mild anemia with marked microcytosis
(low MCV).

Front 10

Clinical Presentation. The presentation is dependent on the number of abnormal genes

Back 10

Four-gene-deleted alpha thalassemia patients die in utero secondary to gamma
chain tetrads called hemoglobin Barts.

Front 11

distinguish between the different types of
minor thalassemias, either alpha or beta,

Back 11

You cannot distinguish between the different types of
minor thalassemias, either alpha or beta, from iron deficiency or other causes of anemia like
folate deficiency simply based on clinical presentation. The presentation is not based on the
etiology. The presentation is based on the severity

Front 12

Patients with beta thalassemia major are
homozygous for mutations of both genes coding for

Back 12

Patients with beta thalassemia major are
homozygous for mutations of both genes coding for the beta hemoglobin gene.

Front 13

Cooley anemia,

Back 13

These patients
with beta thalassemia major, also known as Cooley anemia, become severely symptomatic
starting at 6 months of age when the body would normally switch from fetal hemoglobin to
adult hemoglobin. They are severely symptomatic with growth failure, hepatosplenomegaly,
jaundice, and bony deformities secondary to extramedullary hematopoiesis.

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patints are symptomatic later from

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symptomatic from hemochromatosis, cirrhosis, and congestive heart failure from chronic
anemia and transfusion dependence.

Front 15

Clues to the diagnosis of thalassemia trait

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Clues to the diagnosis of thalassemia trait is a mild anemia with a profound microcytosis.

Front 16

Beta thalassemia major has the severe symptoms, ....

Back 16

Beta thalassemia major has the severe symptoms, large spleen, and bone abnormalities
described above.

Front 17

how to ds both forms of thalassemia

Back 17

Both forms of thalassemia are diagnosed by having a microcytic anemia with
normal iron studies.

Front 18

Hemoglobin electrophoresis tells

Back 18

Hemoglobin electrophoresis tells which type of thalassemia is present. In
beta thalassemia, there is an increased level of hemoglobin F and hemoglobin A2• In beta thalassemia
major, the hemoglobin is as low as 3-4 g/dL. Those with alpha thalassemia will have
normal amounts of hemoglobins F and A2•

Front 19

Tetrads of beta chains are called

Back 19

Tetrads of beta chains are called hemoglobin H.

Front 20

Hemoglobin H is present in

Back 20

Hemoglobin H is present in alpha thalassemia with three of four genes deleted.

Front 21

Target cells are
present in

Back 21

Target cells are
present in all forms of thalassemia trait and thalassemia major.

Front 22

The RDW

Back 22

The RDW is normal in all forms
because all of the cells are of the same size.

Front 23

specific treatment.thalassemia traits

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Thalassemia traits of both the alpha and beta types do not require specific treatment.
B

Front 24

Beta thalassemia major patients requir

Back 24

eta thalassemia major patients require blood transfusions once or twice a month. The
chronic transfusions lead to iron overload, which requires treatment with deferasirox. Oral
deferasirox is the standard of care. This is easier to give than deferoxamine. Splenectomy eliminates
a major area of hemolysis and therefore helps reduce transfusion requirements.

Front 25

A small
number of patients can be treated with

Back 25

A small
number of patients can be treated with a bone marrow transplantation

Front 26

The
chronic transfusions lead to

Back 26

The
chronic transfusions lead to iron overload, which requires treatment with deferasirox.

Front 27

the standard of care. in thalass

Back 27

Oral
deferasirox is the standard of care. This is easier to give than deferoxamine.

Front 28

Splenectomy how will help

Back 28

Splenectomy eliminates
a major area of hemolysis and therefore helps reduce transfusion requirements.