CPTC: Hematology: CHapter 8: The normochromic anemias caused by hemoglobinopathies

Painful swelling of hands and feet caused by sickle cells in the microcirculation of sickle cells infants is termed: A) Dactylitis B)Necrosis C)Apoptosis D)Fibrosis

A

The hemoglobin that cannot be separated from Hgb S through electrophoresis in buffer at pH 8.6 is: A) Hgb D B) Hgb C C) Hgb A D) Hgb F

A

When the bone marrow temporarily ceases to produce cells in a sickle cell patient, a(n) _________ crisis has occurred. A) aplastic B) hemolytic C) vaso-occlusive D) cardiac

A

When the bone marrow temporarily ceases to produce cells in a sickle cell patient, a________ crisis has occured

A

Which of the following conditions is the leading cause of hospitalization for sickle cell patients A. Acute chest syndrome B. Priapism C. Painful crisis D. Splenic sequestration

A

Levels of Hgb F great than ___% serve to lessen the clinical severity for sickle cell anemia patients

10

The RBC life span in Hgb C disease is about ___days

38

There are _____ primary haplotypes of the sickle beta gene

4

The heterozygous condition of Hgb C is called Hgb A-C trait, and will have ___% of hgb C

40%

What percentage of Hgb S is present in sickle cell trait

40%

What percentage is the prevalence of the sickle cell gene among African Americans

8-10%

Alkaline electrophoresis will not separate hemoglobin C from: A) Hemoglobin A2 B)Hemoglobin F C)Hemoglobin S D)Hemoglobin A

A

In hemoglobin C disease, the majority of the red cells appear as: A) Target cells B)Spherocytes C)Elliptocytes D)"Bars of gold"

A

In sickle cell anemia, _____is substituted for glutamine. A)valine B) lysine C) adenine D) leucine

A

Which of the following shows crystals appearing like bars of gold in the peripheral smear A. hgb cc disease B. hgb dd disease C. hgb ee disease D. hgb ss disease

A

A 26-year-old day laborer with a long history of anemia has a several-month history of dyspnea, fever, and pulmonary pain. Additionally, he complains of tightness in the chest and upper abdominal region. His hematology values are as follows: WBC 15.9 ´ 109/L RBC 2.9 ´ 1012/L Hgb 9.5 g/dL Hct 30% MCV 103 fL MCH 31 pg MCHC 32% NRBC 15/100 WBC Platelets 275 ´ 109/L Reticulocytes 16.8% The hemoglobin electrophoresis results are as follows: Hgb A = 3% Hgb A2 = 2% Hgb S = 85% Hgb F = 10% The most likely diagnosis is: A) Sickle cell trait B)Sickle cell disease C)Beta thalassemia minor D)Sickle thalassemia

B

A patient with sickle cell anemia may develop cardiopulmonary disease due to: A. Untreated leg ulcers B. High blood viscosity C. Increased Hgb F levels D. Hemolytic crisis

B

Patients with sickle cell anemia generally have a hemoglobin value between: A) 2 and 4 g/dL B) 6 and 8 g/dL C) 8 and 10 g/dL D) 10 and 12 g/dL

B

The hemolytic anemias are generally classified morphologically as: A) Macrocytic, normochromic B) Normochromic, normocytic C) Microcytic, hypochromic D) Microcytic, normochromic

B

The lungs are particularly susceptible in individuals with sickle cell disease and may be involved in: A) COPD B) Pulmonary hypertension C) Aplastic crisis D) Cardiac crisis

B

Which of the following hemoglobins ranks second in variant hemoglobins worldwide A. S B. E C. H D. C

B

Which of the following is an alpha chain variant? A) Hemoglobin C B)Hemoglobin G C) Hemoglobin S D) Hemoglobin A2

B

Which of the following statements pertains to most clinically significant hemoglobin variants? A. Most are fusion hgb B. most are single amino acid substitutions C. Most are synthetic defects D. Most are extensions of the amino acid chains

B

____ is the second most common hemoglobin variant worldwide. A) Hemoglobin S B)Hemoglobin E C)Hemoglobin C D)Hemoglobin D

B

Which haplotype of sickle cell gene is seen mostly in central south africa with hgbF at 5-20%

Bantu

Which haplotype of the sickle cell gene is seen mostly in West Africa, Mediterranean with less than 10% hgbF

Benin

A blood smear from a patient with sickle cell crisis shows 80 nucleated red cells per 100 leukocytes. The total leukocyte count is 18 ´ 109/L. The corrected white cell count is: A. 17,200 B. 9,000 C. 10,000 D. 13,400

C

In hemoglobin C disease, ____ is substituted for glutamic acid. A) valine B)adenine C)lysine D)leucine

C

In patients with sickle cell trait and no complicating disease: A) NRBCs and polychromasia are usually seen on the peripheral smear B) Sickle cells are prevalent in the peripheral blood C) There may be occasional hematuria D) There is a severe decrease in Hgb, Hct, and RBC count

C

Mr. Bennett was admitted with a hematocrit of 28%. He has a history of chronic anemia, moderate splenomegaly, and recent retinal hemorrhages. His peripheral smear reveals target cells, and some show structures jutting from the red cell membrane. The most probable diagnosis is: A)Hgb S-S B)Hgb A-C C)Hgb S-C D)Hgb A-A

C

The Benin haplotype of sickle cell disease is prevalent in which country or countries? A. Saudi Arabia and Asia B. Senegal C. West Africa D. Central and South Africa

C

The benin haplotype sickle cell disease is prevalent in which country or countries A. Saudi arabia and Asia B. Senegal C. West Africa D. Central and South Africa

C

The hemoglobin variant that is seen frequently in the Southeast Asian population, and migrates with Hgb C at pH 8.6, is: A. Barts B. F C. E D. H

C

What is the amino acid substitution in patients with sickle cell anemia? A. Adenine for thymine B. Lysine for valine C. Valine glutamic acid D. Cytosine for guanine

C

Which of the following hemoglobin separation methods is used for the most newborn hemoglobin screening? A. High performance liquid chromatography B. Alkaline electrophoresis C. Isoelectric focusing D. Acid electrophoresis

C

Autosplenectomy is characteristic of A. Sickle cell trait B. Hgb C disease C. Thalassemia D. Sickle cell anemia

D

Autosplenectomy is characteristic of: A. Sickle cell trait B.Hgb C disease C. Thalassemia D. Sickle cell anemia

D

Sickle cell disease is best differentiated from sickle cell trait by: A) Wright smear examination B) Determination of fetal hemoglobin C) Genetic testing D) Hemoglobin electrophoresis

D

Which of the following "poikilocytes" are classically associated with hemoglobinopathies and liver disease? A)Spherocytes B)Sickle cells C)Acanthocytes D)Target cells

D

Which of the following factors contributes to the pathophysiology of sickling? A. Increased iron concentration B. Hypochromia C. Fava beans D. Dehydration

D

in _________disorders, lysine is substitutded for glutamin acid in the 6th position on the beta chain

Hgb C

This hemoglobin disease has a substitution for glutamic acid in the sixth position of the N-terminal end of the beta chain

Hgb C Disease

Which hemoglobin disease produces crystalline structures on the RBC, 50-90% target cells, "pocket-book" shaped cells

Hgb C Disease

When Hgb C is inherited homozygously, this occurs

Hgb C disease

When Hgb C is inherited heterozygously, this occurs

Hgb C trait

Rare clinical variant in which both genetic states are asymptomatic, seen in large numbers in great britain

Hgb D punjab

Hgb variant seen with great frequency in southeast asia

Hgb E

This type of Hgb has a high occurence in individuals from southeast asia, Second most common hemoglobin variant worldwide

Hgb E

Rare hgb variant, seen in african americans, high incidence in Ghana.

Hgb G phila

Uncommon hgb found in 0.4% of African Americans. Most are asymptomatic, but must distinguish is from Hgb C

Hgb O arab

Hgb D, and Hgb G migrate with ______ on alkaline electrophoresis

Hgb S

Combination hemoglobin condition, may produce a clinical picture as severe as sickle cell anemia, with virtually no Hgb A present. Microcytic, hypochromic anemia, nrbcs, target cells, polychromasia, sickle cells, RDW and reticulocytes are increased, splenomegaly is usually present

Hgb S-Beta Thalassemia

May produce conditions as severe as sickle cell disease

Hgb S-beta thalassemia

The result of inheriting two abnormal hemoglobins, hgb s, and hgb c.

Hgb SC

This disease is a combination of two abnormal hemoglobins, Hgb S, and Hgb C

Hgb SC Disease

Which Hgb Disease shows high numbers of target cells, few reversible sickle cells, folded cells, with a peculiar crystal shaped like washington monument or gloved hand

Hgb SC Disease

Dithionite solubility is the usual screening procedure to determine if ______ is present

Hgb s

Patients who live longer with sickle cell disease have a higher level of

HgbF

The medication Hydroxyrea, in sickle cell disease, increases the ____ in sickle cells

HgbF

Which haplotype of the sickle cell gene is seen mostly in West African Coast, with 5-20% HgbF

Senegal

With Hgb Electrophoresis, which two bands are seen in patients with sickle cell anemia

hgbF, HgbS

What count may need to be corrected if NRBCs are present

WBC

The dithionite solubility tests is based on the principle that ______ precipitates in high-molarity buffered phosphate solutions. The purpose is to detect not quantify it.

hgbS

___________anemia may develop in sickle cell disease when infection, usually parvovirus, when the already overworked bone marrow simply fails to produce cells

acute aplastic

What syndrome represents the leading cause of death and hospitalization in patients with sickle cell disease

acute chest

Which haplotype of the sickle cell gene is seen mostly in Saudi Arabia, and asia, with less than 20% hgbF

asian

Referring to chromosome, a non-sex linked chromosome

autosomal

Most hemoglobinopathies are the result of single amino acid substitution in the

beta chain

low blood pressure

hypovolemic

In sickle cell anemia bilirubin and LDH are

increased

During__________, in sickle cell anemia, the peripheral smear shows marked polychromasia, nrbcs, target cells, and reversible/irreversible sickle cells

crisis episodes

In sickle cell anemia haptoglobin is_________ which indicates extravascular hemolysis

decreased

The first level screening procedure for adults with sickle cell anemia includes

dithionite solubility

Acid or alkaline electrophoresis and IEF provide better methods to isolate

hemoglobin bands

With homozygous sickle cell the majority of the hgb is

hgb S

With heterozygous sickle cell, which two hgb are present

hgb S, hgb A

extension of an amino acid chain causes

hgb constant spring

Fusion of the hemoglobin chains causes

hgb lepore

The presence of ________ affords some protection against malarial infection of rbcs

hgb s

The method of choice for most newborn screening in the united states is

isoelectric focusing

Cells containing Hgb S as the majority hemoglobin are insoluble in areas of the body with

low oxygen tension

Patients with sickle cell anemia have a lifelong _________and _______ anemia, with decreased hgb (6-8), decreased hct, decreased RBC

normochromic, normocytic

______ is the trademark of patients with sickle cell disease

painful crisis

Children with sickle cell anemia are 100 times more susceptible to ______ than other children

pneumonia

Irreversible sickle cell morphology is

pointed projections

In sickle cell anemia the __________count is always increased leading to a slightly increased MCV

reticulocyte

Homozygous inheritance of Hgb S produces

sickle cell anemia

This is a beta chain variant, and inheritance of the beta chains located on chromosome 11

sickle cell anemia

A single amino acid substitution in one of the chains, usually the beta chain causes

sickle cell disease or trait

heterozygous inheritance of hgb s produced

sickle cell trait

Patients show NRBCs, sickle cells, target cells, and polychromasia during a

sickle crisis episode

Sickle cells clog small vessels during _____________-, causing extensive organ damage and pain

sickling crisis

__________Accounts for most of the hemoglobinopathies that manifest with hemolysis and clinical symptoms

single amino acid substitution in the beta chain

Abnormal synthesis of one of the amino acid chains causes

thalassemia

In sickle cell disorders, ________is substituted for glutamic acid in the sixth position of the beta chain

valine

thickness

viscosity

Reversible sickle cell morphology is discoid or _____ shape

wheat