Term
| What is the most common hemoglobinopathy in the U.S.? |
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Definition
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Term
| Describe the CBC and PBS of sickle cell trait. |
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Definition
| normochormoic/normocytic, normal except for a few target cells. Sickled RBCs usually not seen |
|
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Term
| What is the % Hb for sickle cell trait? |
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Definition
| 50-65% HbA, 35-45% HbS, normal to slightly elevated HbA2, normal HbF |
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Term
| Describe the clinical features of HbC disease. |
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Definition
| mild, compensated chronic hemolytic anemia with splenomegaly |
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Term
| Describe the mutation of HbCC disease. |
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Definition
| glu -> lys at position 6 of beta chain (AR inheritance) |
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Term
| What is the incidence of AA with HbCC? |
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Definition
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Term
| What percent of RBCs in HbCC are target cells? |
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Definition
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Term
| Describe the PBS of HbCC. |
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Definition
| usually normochromic/normocytic anemia with reticulocytosis (increased RDW). Target cells numerous. Hexagonal or rodshaped crystals |
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Term
| What is the hemoglobin breakdown of HbCC. |
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Definition
| 0% HbA, >90% HbC, <7% HbF |
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Term
| T/F Hemoglobin C disease is uaully aymptomatic. |
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Definition
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Term
| What is the treatment for HbCC disease. |
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Definition
| usually no therapy is required |
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Term
| What percent of AA have Hemoglobin C trait? |
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Definition
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Term
| What is the CBC/PBS of pts with HbAC? |
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Definition
| normochromic/normocytic, target cells frequently prominent (~40%) |
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Term
| What is the Hb breakdown of HgC trait? |
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Definition
| 30-40% HbC; 50-60% HbA; normal HbF and HbA2 |
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Term
| What is the incidence of HbSC disease? |
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Definition
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Term
| What percent of patients with HbSC disease are symptomatic? |
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Definition
| 20-50% of patients are asymptomatic; 50-80% of patients have severity intermediate between HbAS and HbSS |
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Term
| What is the CBC/PBS of HbSC disease? |
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Definition
| mild to moderate anemia that is normochromic/normocytic (less often microcytic). Numerous target cells (up to 85%), sickle cells and HbC crystals often present |
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Term
| What two diseases test positive for sickledex screening test? |
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Definition
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Term
| What is the percent Hb breakdown of HbSC? |
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Definition
| HbC = HbS; HbF is normal to 7%; HbA2 is in small amounts and HbA is absent |
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Term
| What populations commonly have alpha thalassemia? |
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Definition
| common in Se Asia and black population |
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|
Term
| What populations have beta thalessemia? |
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Definition
| common in black population, greeks and italians |
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Term
| The geographic distribution of thalessemias parallels that of ____. |
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Definition
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Term
| What is alpha thalessemia trait? |
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Definition
| two gene deletions of alpha |
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Term
| What's the difference between asian type and black type alpha thalessemia trait? |
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Definition
| asian type has the two alphas on the same chromosome deleted. Black type has one alpha on each chromosome deleted |
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|
Term
| What is the Hb electrophoresis of alpha thalessemia trait? |
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Definition
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|
Term
| What is the CBC/PBS of alpha thalessemia trait? |
|
Definition
| mild microcytic anemia with increased RBC count; RDW usually normal |
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|
Term
| How do you treat alpha thalessemia trait? |
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Definition
| no treatment (do not give iron because it can cause an iron overload) |
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Term
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Definition
| mod-severe microcytic anemia because of three missing alpha chains |
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|
Term
| What is Hb of HbH disease? |
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Definition
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Term
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Definition
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Term
| What is characteristic of HbH disease on PBS? |
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Definition
| supravital staining of RBCs shows golf-ball cells (d/t HbH precipitates) |
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Term
| What happens when you have absence of 4 alpha chains? |
|
Definition
| hydrops fetalis (non-viable) |
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Term
| What type of Hb is detected on electrophoresis of individuals with absence of 4 alpha chains? |
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Definition
| Bart's Hb (gamma chain tetramers) |
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Term
| What is the Hgb and MCV of a silent carrier of alpha thalessemia? |
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Definition
| Hgb= 12 to 14; MCV= 75 to 85 |
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Term
| What is the Hgb and MCV of alpha thalessemia minor? |
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Definition
|
|
Term
| What is the Hgb and MCV of HbH disease? |
|
Definition
|
|
Term
| What is the Hgb electrophoresis of alpha thalessemia minor? |
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Definition
| normal adult; Hb Barts at birth (gamma4) |
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|
Term
| What is the Hgb electrophoresis of HbH disease? |
|
Definition
| mostly A; Hb barts (1-5%); HbH (beta 4) (5-30) |
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|
Term
| What is the genetics of beta thalessemia? |
|
Definition
| autosomal dominant on chr 11; structural genes are present but mRNA is either not produced or is degraded rapidly resulting in diminished beta chain synthesis |
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Term
| What is the genotype, Hgb, and Hgb analysis of beta thalessemia minor (trait)? |
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Definition
| B/B+, or B/B0; 10-13; increased HbA2, increased HbF |
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Term
| What is the genotype, Hgb, and Hgb analysis of beta thalassemia intermedia? |
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Definition
| beta+/beta+; 7-10; increased HbA2, greatly increased HbF |
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Term
| What is the genotype, Hgb, and Hgb analysis of beta thalessemia major (Cooleys)? |
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Definition
| B+/B0 or B0/B0; <7; increased HbA2, very very greatly increased HbF |
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Term
| T/F Beta thalaessemia trait makes RBCs resistant to malaria infection. |
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Definition
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|
Term
| What are the clinical characteristics of beta thalassemia trait? |
|
Definition
| asymptomatic microcytic hypochromic anemia with mild erythroid hyperplasia |
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|
Term
| What is the RBC count in beta thal minor? |
|
Definition
|
|
Term
| What is the RDW of beta thal minor? |
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Definition
|
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Term
| What are the morphological characteristics of PBS in beta thal minor? |
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Definition
| mild hypochromia, little anisocytosis, target cells and basophilic stippling |
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Term
| What are the features of iron def anemia that differentiate it from beta thal minor? |
|
Definition
| decreased RBC count, RDW usually high, use iron studies, HbA2 decreased, HbF normal |
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Term
| What is the clinical presentation of beta thalessemia intermedia? |
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Definition
| intermediate in severity between beta thalassemia major and beta thalassemia minor |
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Term
| What are the different purposed genotypes of beta thalassemia intermedia? |
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Definition
| heterozygote B0/B+ or a mild form of B-thal major of a severe form of B-thal minor |
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Term
| What are the features of beta thalassemia intermedia on PBS? |
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Definition
| hemolytic anemia, hypochromia, microcytosis, variable anisopoikilocytosis, targets, NRBCs, stippling, HbA2 >3.5 percent (HPLC), Hb F increased |
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|
Term
| What is the clinical presentation of beta thal major? |
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Definition
| severe anemia that presents in infancy and can result in death in childhood if not transfused as well as growth retardation. Iron overload leads to organ dysfunction |
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Term
| The markedly increased hematopoiesis of beta thalesesmia major leads to... |
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Definition
| bone distortion and hepatosplenomegally (d/t extramedullary hematopoiesis) |
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Term
| What are the skeletal changes associated with beta thalessemia major? |
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Definition
| osteoporosis due to marrow expansion; pneumatization of the sinuses is delayed by expanded hematopoiesis |
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|
Term
| What are the cardiac defects asssociated with beta thal major? |
|
Definition
| dilated cardiomyopathy secondary to severe anemia |
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|
Term
| T/F Beta thal major causes growth and developmental delay. |
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Definition
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|
Term
| What causes anemia in beta thalessemia major? |
|
Definition
| excess alpha chains --> apoptosis --> ineffective erythropoiesis |
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|
Term
| What do you see on CBC of beta thal major? |
|
Definition
| severe microcytic anemia with increased RDW (but reticulocytosis is not as high as expected for degree of anemia) |
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|
Term
| What is the blood morphology of beta thal major? |
|
Definition
| extreme poikilocytosis/anisopoikilocytosis, targets, stippling, NRBCs, HJ bodies, pappenheimer bodies |
|
|
Term
| What is the Hb electrophoresis results of beta thal major? |
|
Definition
| 0% HbA; 10% HbA2; 90% HbF |
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|
Term
| What is the clinical presentation of sickle cell beta thalassemia? |
|
Definition
| clinically resembles sickle cell anemia but tends to run a milder course; splenomegally is common |
|
|
Term
| Which racial populations are at higher risk for sickle cell beta thalassemia? |
|
Definition
| african, italian and greek ancestry |
|
|
Term
| What is the CBC of HbS/Beta thalassemia? |
|
Definition
| microcytic anemia with an MCV of 70 |
|
|
Term
| What is the blood morphology of HbS-beta thalassemia? |
|
Definition
| poikilocytosis, targets, stippling, polychromasia; sickle forms may be observed in more severely affected cases |
|
|
Term
| What is the Hgb breakdown of HbS-beta thalassemia? |
|
Definition
| 60-90% HbS; 0-30% HbA, 1-20% HbF, >3% HbA2 |
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