What is the absolute reticulocyte count result of individuals with folate and cobalamin deficiency?

What is the serum total and indirect bilirubin result of individuals with folate and cobalamin deficiency?

What is the serum lactate dehydrogenase result of individuals with folate and cobalamin deficiency?

Serum vitamin B12 in Folate deficiency

Serum vitamin B12 in Vitamin B12 deficiency

Serum folate in Folate deficiency

Serum folate in VB12 def.

RBC folate in VB12 def.

RBC folate in Folate def.

Serum folate in Folate def.

Serum methylmalonic acid in folate deficiency

Serum methylmalonic acid in VB12 def.

Serum/plasma homocysteine in folate def.

Serum/plasma homocysteine in VB12 def.

holoTC assay (Holotranscobalamin) in VB12 def.

holoTC assay (Holotranscobalamin) in folate def.

Which of the following abnormal findings in the peripheral blood smear will a strict vegetarian exhibit? 1. Larger than normal erythrocytes that are oval in shape 2. Neutrophils that show hyposegmentation 3. Neutrophils that show hypersegmentation

Disorders characterized by impaired synthesis of HEME

Lead poisoning is an example of?

due to differences in the arrangement of amino acids in the polypeptide chain

Qualitative, globin synthesis defect

enzyme needed to completely remove the RNA remnants from reticulocytes

can inhibit many enzymes in the body, including ferrochelatase and pyrimidine-5’-nucleotidase

What is the most frequently occurring hemoglobinopathy?

Both beta genes are mutated

HbA1 is absent

Abnormal hemoglobin becomes the predominant Hb type

Genotype Hb SS in sickle cell disease and genotype Hb CC is Hb C disease is an example of?

One of the beta genes is normal

Other beta genes are mutated

Hb A1 >= Abnormal Hb

Sickle cell trait genotype Hb AS and Hb C trait genotype HbAC is an example of?

What is the most common abnormal hemoglobin present in certain beta hemoglobinopathies?

Glutamic acid on the 6th position of the beta chain is replaced by lysine.

Characteristic appearance: Washington Monument

-found protruding the RBC membrane

characteristic appearance: bar of gold

-found within the RBC membrane

What is the most severe in certain beta hemoglobinopathies?

What is the second most common in certain beta hemoglobinopathies?

What is the third most common in certain beta hemoglobinopathies?

At the 26th position of its beta globin, lysine replaced glutamic acid

At the 6th position of its beta globin, lysine replaced glutamic acid

When oxygen is released from the molecule, a conformational change happens which results in polymerization of hemoglobin molecules leading to the formation of tactoids or crystals (in turn, this causes the cells to become rigid).

When oxygenated, Hb S is fully ____ (sickling happens when oxygen drops at the tissue level).

At the 6th position of its beta globin, valine replaced glutamic acid

If the concentration of Hemoglobin S is 80 to 100% (as in ________ ), sickling of the red blood cells occurs readily at only slightly decreased oxygen concentrations

If the concentration of Hemoglobin S is only 20 to 40% (as in the __________), oxygen concentrations must be much lower before sickling occurs.

Hb M-Saskatoon

Hb M-Milwaukee-1

Hb M-Milwaukee-2

Hb Hiroshima

Hb Rainier

Hb Bethesda

Hb Agenogi

Hb Beth Israel

Hb Yoshizuka

Whole blood is mixed with sodium metabisulfite (a reducing agent which deoxygenates Hb)

In such conditions, Hb S existing in the RBC causes the formation of sickle shaped RBCs

Positive results would lead to presence of either sickle cells or "holly leaf" form of the RBCs

“Holly-leaf” form of RBCs is frequently found in the sickle cell trait. Bear in mind, however, that using this method, it is NOT possible to differentiate sickle cell trait from sickle cell anemia. Although in sickle cell anemia, the sickling reaction happens more rapidly than in sickle cell trait, this observation must NOT be relied upon to distinguish between the two conditions.]

Negative results would lead to normal looking or slightly crenated RBCs

-When RBCs are added to the working solution containing sodium dithionite (reducing agent) and saponin(hemolytic agent), the red cells immediately lyse.

-Hb S (and sickling hemoglobins), in the reduced state (in a concentrated buffer solution), forms liquid crystals and produces a turbid appearance

A positive result would yield turbid solution (black lines on the reader scale are NOT visible through the test solution)

A negative result would lead to a clear solution (black lines on the reader scale are visible through the test solution)

Hb S should be confirmed by a positive

Cellulose Acetate

Considered as the primary screening procedure to detect variant (abnormal) hemoglobins

In an alkaline buffer (8.4 to 8.6) hemoglobin is a negatively charged molecule -During electrophoresis, the Hb molecules travel toward the anode (+) because of their net negative charge The difference in the net charge of the Hb molecule defines its mobility and reveals itself by the speed with which it migrates to the positive pole.

-Migration distances of the dif- ferent hemoglobins are based on the electrophoretic charge of the molecules and their adsorption to the agar compound

Used to confirm variant hemoglobins and further differentiates hemoglobin S from D and G, and hemoglobin C from hemoglobins E, OArab, CHarlem

If sodium dithionite tube test is positive, what should be performed further on the specimen?

Which of the following solutions used on sodium dithionite tube test is a reducing agent?

Which of the following solutions used on sodium dithionite tube test is a hemolytic agent?

Greek for “great sea”

♦ Reduction or total absence of synthesis of one or more of the globin chains

Confirmatory test for thalassemia

No. of deleted genes: One of four genes

No. of deleted genes: Two of four genes

No. of deleted genes: Three of four genes

No. of deleted genes: Four of four genes

Most severe form of alpha thalassemia

Aka Hb Bart hydrops fetalis syndrome

Aka Hb Bart syndrome

This genotype (--/--) implies that the patient has:

This genotype (--/-a) implies that the patient has:

This genotype (-a/-a) implies that the patient has:

This genotype (--/aa) implies that the patient has:

This genotype (-a/aa) implies that the patient has:

Which of the following is asymptomatic?

Which of the following manifests as mild microcytic hypochromic anemia?

Which of the following manifests as microcytic hypochromic anemia?

found in adults

may coexist with Hb Constant Spring (a more severe disease than it)

found in neonates

Aka Beta thalassemia minor

Aka Cooley's anemia

Some of the ____________-- patients’ characteristics include: ▪frontal bossing ▪prominence of the cheekbones and upper jaw ▪skull radiographs may exhibit a typical “hair on end” appearance ▪iron accumulation in various organs (mainly due to the regular RBC transfusions required in β-thalassemia major

Bsilent/B

B+/B

B0/B

B+/B+

B+/B0

B0/B0

Bsilent/Bsilent

B+/Bsilent

B0/Bsilent

MOST SEVERE FORM OF BETA THALASSEMIA

moderate clinical symptoms, transfusion-independent, mild to moderate hemolytic anemia, microcytic, hypochromic

severe hemolytic anemia; microcytic, hypochromic RBCs; transfusion-dependent Possible PBS findings: target cells, teardrop cells, elliptocytes, nucleated red cells, polychromasia, basophilic stippling, Howell-Jolly bodies, and Pappenheimer bodies

asymptomatic; mild hemolytic anemia; microcytic, hypochromic RBCs

asymptomatic; normal hematologic parameters

β-globin gene mutation in which no β chains are produced

β-globin gene mutation that results in 5% to 30% reduction in β chain production

β-globin gene mutation that results in mildly decreased β chain production