Hemolytic Anemia: Hemoglobinopathies Overview

<p>Hyposplenism (C)</p> Signup and view all the answers

<p>Infection (D)</p> Signup and view all the answers

<p>One in two (B)</p> Signup and view all the answers

<p>All will carry the abnormality (D)</p> Signup and view all the answers

<p>1:2:1 (D)</p> Signup and view all the answers

<p>50% homozygous, 50% heterozygous (A)</p> Signup and view all the answers

<p>25% (D)</p> Signup and view all the answers

<p>141 (A)</p> Signup and view all the answers

<p>Fetal hemoglobin (A)</p> Signup and view all the answers

<p>Sickle cell hemoglobin (D)</p> Signup and view all the answers

<p>Exchange blood transfusion (C)</p> Signup and view all the answers

<p>Lysine replaces glutamic acid at position 6 (D)</p> Signup and view all the answers

<p>Enhance sickle cell proliferation (B)</p> Signup and view all the answers

<p>Normocytic and normo- or hyperchromic cells (C)</p> Signup and view all the answers

<p>Ghana (C)</p> Signup and view all the answers

<p>Moderate to severe normocytic/normochromic anemia (A)</p> Signup and view all the answers

<p>In the neonate at birth (D)</p> Signup and view all the answers

<p>Hb electrophoresis (B)</p> Signup and view all the answers

<p>Painful leg ulcers (A)</p> Signup and view all the answers

<p>Hemolytic crisis (D)</p> Signup and view all the answers

<p>Renal papillary necrosis (C)</p> Signup and view all the answers

<p>Arthritis (C)</p> Signup and view all the answers

<p>Staphylococcus aureus (C)</p> Signup and view all the answers

<p>Increased infection susceptibility (D)</p> Signup and view all the answers

<p>Valine for glutamic acid (B)</p> Signup and view all the answers

<p>Priapism (B)</p> Signup and view all the answers

<p>Enlarged heart (B)</p> Signup and view all the answers

<p>40% (B)</p> Signup and view all the answers

<p>Cholelithiasis (B)</p> Signup and view all the answers

<p>Sickling of red blood cells (C)</p> Signup and view all the answers

<p>After 6 months (B)</p> Signup and view all the answers

<p>Congestive heart failure (D)</p> Signup and view all the answers

<p>Cytomegalovirus (C)</p> Signup and view all the answers

<p>50 years (D)</p> Signup and view all the answers

<p>Hemoglobin S (A)</p> Signup and view all the answers

<p>Increased pencil-shaped cells (A)</p> Signup and view all the answers

<p>Patient has hemoglobin AS, and the solubility test is incorrect. (B)</p> Signup and view all the answers

<p>70% (B)</p> Signup and view all the answers

<p>Hemoglobin A2 (D)</p> Signup and view all the answers

<p>Hemoglobin AS (D)</p> Signup and view all the answers

<p>G6PD deficiency (D)</p> Signup and view all the answers

<p>Absence of sickle cell gene (A)</p> Signup and view all the answers

A type of sickle cell crisis characterized by a sudden decrease in hemoglobin and hematocrit levels, increased reticulocytes, and jaundice. It often results from acute splenic sequestration.

A sickle cell crisis caused by the blockage of small blood vessels due to the adherence of sickle cells to the endothelium. It typically lasts for 4-6 days, but can persist for weeks.

A type of sickle cell crisis associated with infections like parvovirus. It involves a decrease in reticulocytes and usually resolves within 5-10 days.

A condition where the spleen has lost its ability to function properly due to repeated damage from sickle cell disease. This can lead to an increased risk of infections.

A type of red blood cell that appears as a target with a central bull's eye resembling a target. These cells are often found in people with Sickle Cell Disease.

A painful, prolonged erection of the penis, often caused by sickle cell anemia.

A condition where the spleen shrinks and stops functioning properly due to repeated sickle cell crises.

A crisis characterized by blood clots blocking small blood vessels, leading to pain and tissue damage.

A painful condition characterized by swelling and inflammation in the hands and feet, often seen in sickle cell anemia.

Damage to the kidney tissue due to blockages and inflammation, a common complication in sickle cell anemia.

A painful condition where the joints become inflamed and painful.

A person with one abnormal hemoglobin gene and one normal gene will have a 50% chance of passing on the abnormal gene to their offspring.

A person with two abnormal hemoglobin genes will pass on an abnormal gene to all their offspring.

When both parents have one abnormal and one normal hemoglobin gene, there's a 1 in 4 chance of the offspring having two normal genes, a 2 in 4 chance of having one normal and one abnormal gene, and a 1 in 4 chance of having two abnormal genes.

If one parent has two abnormal genes (homozygous) and the other has one abnormal and one normal (heterozygous), there's a 50% chance of the offspring inheriting the homozygous condition and a 50% chance of inheriting the heterozygous condition.

When parents carry different abnormal hemoglobin genes, offspring have a 1 in 4 chance of inheriting neither abnormality, a 1 in 2 chance of inheriting one or the other abnormality, and a 1 in 4 chance of inheriting both abnormalities.

Hemoglobin S, also known as sickle cell hemoglobin, was the first abnormal hemoglobin identified.

Hemoglobin variants are categorized alphabetically based on their electrophoretic mobility, starting with letter C.

Some abnormal hemoglobins are named after the geographic location where they were first identified.

A laboratory test used to differentiate HbS (sickle cell hemoglobin) from other hemoglobin variants. A positive test indicates the presence of HbS.

A form of hemoglobinopathy caused by a genetic mutation leading to the production of an abnormal hemoglobin variant, HbC. This results in an increased number of target cells.

A type of hemoglobin electrophoresis used to separate different types of hemoglobin based on their electric charges.

A genetic condition characterized by a deficiency in the enzyme pyruvate kinase, leading to a buildup of red blood cell precursors in the bone marrow.

A type of red blood cell with a characteristic shape resembling a bud or a teardrop. Often associated with hereditary pyropoikilocytosis (HP).

A form of sickle cell disease where only one beta chain is affected, resulting in a mixture of normal and sickle hemoglobin.

Sickle cell trait is characterized by having one normal beta chain and one sickle beta chain.

The most common hemoglobinopathy in the United States. This means it is the most prevalent genetic disorder affecting hemoglobin.

Sickle cell trait provides partial protection against malaria, specifically Plasmodium falciparum.

A blood test is typically performed after six months of age to diagnose sickle cell trait.

The life expectancy of individuals with sickle cell trait is comparable to the general population, reaching around 50 years with proper treatment.

Individuals with sickle cell trait experience a variety of health problems such as hematuria (blood in urine), hyposthenuria (low urine concentration), and occasional crisis states.

Individuals with sickle cell trait may experience sickling during extreme situations like severe respiratory infection, excessive exercise, or drastic changes in pH and O2 levels.

A genetic disorder where a mutation in the beta-globin gene leads to the production of abnormal hemoglobin (HbS), resulting in sickle-shaped red blood cells.

A treatment for sickle cell anemia that aims to increase the production of fetal hemoglobin in the adult. This type of hemoglobin is less likely to sickle.

A procedure that replaces the patient's bone marrow with healthy bone marrow from a donor. This can cure sickle cell anemia but comes with risks.

A treatment for sickle cell anemia that involves directly altering the genes responsible for producing abnormal hemoglobin. This is a newer approach with promising potential.

A genetic disorder where the beta-globin gene has a mutation leading to the production of a variant hemoglobin called HbC.

A genetic condition where there is one copy of the HbC gene and one copy of a normal beta-globin gene. This leads to a milder condition than HbC disease.

A rare genetic disorder affecting both the beta-globin genes. It causes moderate to severe anemia and is characterized by the presence of both HbS and HbC.

This refers to the presence of other abnormal hemoglobin variants apart from HbS. Examples include HbC, HbE, and HbD. These variants can interact with HbS, leading to varying degrees of clinical symptoms.