Flashcards in Thalassemia Syndromes Deck (47):
State the hemoglobin molecule defect found in thalasssemias,
Describe the suspected reasoning for the same geographic distribution that coincide with the incidence of malaria and the heterozygous state of the thalassemia syndromes
Gene selection, Similar to sickle cell.
State the global chain composition and percentages of the three normal adult hemoglobins.
A = alpha2, beta2 = >95%
A2 = Alpha 2, Delta2 = 0.5-3%
F = Alpha 2, Gamma2 = (>/= to) 2%
What is meant by Beta^0 thalassemia?
No Beta chain production
What is meant by Beta^+ thalassemia?
Reduced/no Beta chain production
What is meant by Alpha^0 thalassemia?
No Alpha chain production (Bart's produced which is 4 gamma)
List the four genetic possibilities that may occur with an alpha thalassemia.
No alpha production,
one alpha chain functioning,
two alpha chains functioning,
three alpha chains functioning,
What is cooley's anemia?
Beta thalassemia major
What is the pathology of Beta thalassemia major?
Reduced Beta chain production
What is the ethnic distribution of Beta thalassemia major?
Mediterranean area and southeast Asia
What are the clinical features of Beta thalassemia major?
Early childhood onset (6month-2 years), hemolytic, shortened life span (4th decade), hair on end and jaw bone jut,
What are the CBC results of Beta thalassemia major?
Too many RBC for HGB
What is the RBC morphology for Beta thalassemia major?
Marked aniso, poly, hypo, micro, schistocytes, spheres, tears, H-J, Basophilic stippling, heinz bodies (alpha) and nRBC
What is the retic count of Beta thalassemia major?
What is the BM exam of Beta thalassemia major?
Marked expansion = skeletal disease
What are the two mechanisms responsible for early cell destruction as seen in beta thalassemia major?
Reduced/absent Beta chain = excess Alpha which deposit as heinz = pitted out and membrane damage in BM and PB.
What are the reasons for Hair on end and Mongoloid appearance to face?
Expansion of BM
What are the typical CBC results for that patins with regard to rule of three?
Too many RBC for HGB
State the results of the following tests with beta thal major...
Plasma Haptoglobin = Decreased
Serum Bilirubin = Increased
Serum ferritin = Increased
serum iron = Increased
What is the pathology of Beta thalassemia minor?
Reduced rate of Beta chain production
What is the ethnic distribution of Beta thalassemia minor?
Mediterranean sea, SE Asia, Black population of West Africa/North America
What are the clinical features of Beta thalassemia minor?
Usually mild to asymptomatic. Dress can cause hemolytic anemia, slight splenomegaly and normal lifespan.
What are the CBC results of Beta thalassemia minor?
Too many RBC for HGB
What is the RBC morphology for Beta thalassemia minor?
Slight- moderate poik, slight poly, slight hypo, slight-mod micro, Basophilic stippling, Heinz, Occasional nRBC
What is the retic count of Beta thalassemia minor?
What is the electrophilic pattern of Beta thalassemia minor?
A>A2 (increased) >F (increased)
What is the BM exam of Beta thalassemia minor?
Mild-moderate erythroid hyperplasia, increased iron stores
What is the treatment for Beta thalassemia Major?
What is the treatment for Beta thalassemia Minor?
Not usually treated
Compare and contrast Beta than major, with Iron deficiency in regards to...
HGB A2 level
RBC count = Increased
HGB Value = >10
HGB A2 level = >5%
ZPP = normal
RBC count = Decreased
HGB Value =
What is the pathology of Hydrops syndrome?
No Alpha cell production
What is the globin chain makeup of Hydrops syndrome?
Barts = 4 gamma
What is the ethnic distribution of Hydrops syndrome?
SE Asia and Filipino
What is the compatibility with life of Hydrops syndrome?
What is the pathology of Hemoglobin H disease?
Only one gene functions
What is the global chain make up of Hemoglobin H disease?
H = Beta 4
What is the unusual characteristic of Heinz bodies in Hemoglobin H disease?
Pitted golf ball.
What is the pathology of Hemoglobin Lepore?
Fused delta and Betha
What is the hemoglobin produced in Hemoglobin Lepore?
What is Hereditary persistence of Hemoglobin F?
no switch = persistence of F
What is the principe of Klihauer-Betke stain?
Distribution of F in RBC
What is the normal values of Klihauer-Betke stain?
None = no color/lysis F = Dark Pink
What is the staining pattern of Klihauer-Betke stain?
Ghost - HGB A
Dark pink = F
What is the staining pattern with hemoglobinapathies of Klihauer-Betke stain?
What is the composition of Heinz in Beta than?
What is the composition of Heinz in Alpha^0?