Anemia Overview and Classification

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Questions and Answers

What is the main consequence of pyruvate kinase deficiency in red blood cells?

Increased hemoglobin production

Enhanced glycolytic activity

Improved oxygen transport efficiency

Inadequate ATP production leading to hemolysis (correct)

Which genetic pattern describes the inheritance of pyruvate kinase deficiency?

X-linked dominant

Mitochondrial inheritance

Autosomal dominant

Autosomal recessive (correct)

Which gene is primarily implicated in iron-refractory iron deficiency anemia (IRIDA)?

PKLR gene

EPOR gene

HBB gene

TMPRSS6 gene (correct)

Which of the following conditions is characterized by hypoplasia of the bone marrow?

Aplastic anemia Signup and view all the answers

Which statement correctly describes a feature of hereditary hemoglobinopathies?

They involve mutations affecting hemoglobin structure or production. Signup and view all the answers

What is the primary cause of inherited anemia?

Genetic mutations passed down through inheritance Signup and view all the answers

Which of the following is an example of an inherited anemia?

Sickle cell anemia Signup and view all the answers

Which inheritance pattern is associated with G6PD deficiency?

X-linked Signup and view all the answers

What primarily distinguishes inherited anemia from acquired anemia?

Inherited anemia is caused by genetic mutations, while acquired anemia can have environmental or nutritional causes. Signup and view all the answers

What characterizes hemolytic anemia?

Increased rate of red cell destruction Signup and view all the answers

Which factor can contribute to the development of acquired anemia?

Infection with a virus Signup and view all the answers

What is a common symptom of anemia?

Fatigue and weakness Signup and view all the answers

What does a marked reticulocytosis indicate in the context of hemolytic anemia?

Effective red blood cell production despite hemolysis Signup and view all the answers

What primarily characterizes hereditary spherocytosis?

Loss of the normal biconcave shape resulting in spherical RBCs Signup and view all the answers

Which gene mutation is most commonly associated with hereditary spherocytosis?

ANK1 Signup and view all the answers

What is the prevalence of the mild form of hereditary spherocytosis?

20–30% Signup and view all the answers

Which form of hereditary elliptocytosis involves red blood cells that are less flexible and more prone to hemolysis?

Severe form Signup and view all the answers

Which inheritance pattern is most commonly seen in hereditary spherocytosis?

Autosomal dominant Signup and view all the answers

What is the main consequence of the mutations causing hereditary spherocytosis?

Altered cell shape and stability of RBCs Signup and view all the answers

Which form of hereditary spherocytosis has the lowest prevalence?

Severe Signup and view all the answers

What characterizes hereditary elliptocytosis in terms of symptom severity?

Ranges from asymptomatic to severe hemolytic anemia Signup and view all the answers

What is the primary genetic cause of Fanconi Anemia?

Defects in the DNA repair mechanism related to cross-links Signup and view all the answers

Which symptom is characteristic of both congenital and acquired aplastic anemia?

Inadequate production of blood cells Signup and view all the answers

Which congenital abnormality is commonly associated with Fanconi Anemia?

Café-au-lait spots Signup and view all the answers

What condition is specifically linked to the increased cancer risk associated with Fanconi Anemia?

Acute myelogenous leukemia Signup and view all the answers

What is a typical early life symptom of congenital aplastic anemia?

Pancytopenia Signup and view all the answers

What is the typical inheritance pattern for hereditary elliptocytosis in most cases?

Autosomal dominant Signup and view all the answers

Which type of aplastic anemia involves external factors as its cause?

Acquired aplastic anemia Signup and view all the answers

Which gene is NOT typically associated with hereditary elliptocytosis?

G6PD Signup and view all the answers

What is a potential complication faced by individuals with congenital aplastic anemia?

Increased susceptibility to infections Signup and view all the answers

Which factor is NOT known to trigger hemolytic anemia in individuals with G6PD deficiency?

Extreme physical exertion Signup and view all the answers

Which of the following is NOT a characteristic feature of Fanconi Anemia?

Blindness Signup and view all the answers

How does X-inactivation affect females with G6PD deficiency?

The mutated X chromosome is more frequently expressed due to skewed inactivation. Signup and view all the answers

In hereditary pyropoikilocytosis, which statement is true regarding its inheritance?

It is inherited in an autosomal recessive pattern. Signup and view all the answers

What role does glucose-6-phosphate dehydrogenase (G6PD) play in red blood cells?

It protects RBCs from oxidative damage. Signup and view all the answers

What is a common consequence of mutations in genes encoding cytoskeletal proteins affecting RBCs?

Deformation of red blood cells. Signup and view all the answers

Which condition is characterized by the deficiency of glucose-6-phosphate dehydrogenase?

G6PD deficiency Signup and view all the answers

What type of inheritance pattern is associated with Fanconi Anemia?

Autosomal recessive Signup and view all the answers

Which gene is most commonly mutated in Fanconi Anemia?

FANCA Signup and view all the answers

Which of the following is an effect of chromosomal instability in Fanconi Anemia patients?

Elevated chromosomal breakage Signup and view all the answers

What does the DEB test detect in patients suspected of having Fanconi Anemia?

Chromosomal breakage frequency Signup and view all the answers

Which of these genes is identical to the breast cancer susceptibility gene?

FANCD1 Signup and view all the answers

Which statement is NOT true regarding carriers of Fanconi Anemia?

They typically exhibit symptoms of the disorder. Signup and view all the answers

How many different genes are known to cause Fanconi Anemia?

16 Signup and view all the answers

What are common clinical features associated with Fanconi Anemia?

Growth retardation and increased cancer risk Signup and view all the answers

Study Notes

Anemia Overview

Anemia is a condition where the body doesn't have enough healthy red blood cells (RBCs) to carry adequate oxygen to tissues.
Symptoms include fatigue, weakness, shortness of breath, and pale skin.
Anemia can be inherited or acquired.

Inherited Anemia

Caused by genetic mutations passed down through families.
Examples include hereditary spherocytosis, G6PD deficiency, and sickle cell anemia.
Inheritance patterns vary: autosomal dominant, autosomal recessive, and X-linked.

Acquired Anemia

Caused by environmental, nutritional, autoimmune, or disease-related factors.
Examples include iron deficiency, folate deficiency, and aplastic anemia.
Some acquired anemias might have a genetic predisposition.

Classification of Anemia

Anemia is a broader category
Subtypes include hemolytic anemia, iron-deficiency anemia, folate-deficiency anemia, and aplastic anemia.

Hemolytic Anemia

Characterized by increased rate of red blood cell destruction.
A compensated hemolytic condition might show increased erythropoiesis (red blood cell production) and bone marrow expansion before anemia is clinically evident.
Normal adult bone marrow can produce red blood cells 6-8 times the normal rate.
Hereditary hemolytic anemias result from intrinsic red blood cell defects.

Hereditary Hemolytic Anemia Classification

Defects in membrane proteins
Defects in red blood cell metabolism such as G6PD deficiency
Defects in hemoglobin structure

Hereditary Spherocytosis

A genetic disorder causing spherical red blood cells.
Reduced red blood cell deformability leads to early destruction in the spleen.
Forms range from mild to severe.

Hereditary Elliptocytosis

A type of inherited anemia characterized by abnormally shaped red blood cells (elliptical or oval).
Red blood cells are less flexible and prone to destruction.
Severity can range from asymptomatic to severe hemolytic anemia.

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

A genetic disorder affecting red blood cell metabolism.
G6PD enzyme is crucial for protecting red blood cells from oxidative damage.
Without sufficient G6PD, red blood cells are vulnerable to oxidative stress from various factors (infections, drugs, fava beans).
Inheritance is X-linked. Males are typically more severely affected due to their single X chromosome; females might be less affected/asymptomatic if only one X chromosome is dysfunctional.

Pyruvate Kinase Deficiency

A rare genetic disorder affecting red blood cell (RBC) metabolism.
The enzyme pyruvate kinase (PK) is crucial for the glycolytic pathway in RBCs.
Deficiency of PK leads to chronic hemolytic anemia due to insufficient ATP, causing membrane instability and premature RBC destruction.
Inheritance is autosomal recessive.

Hemoglobinopathies

Disorders affecting hemoglobin structure or production.
Sickle cell disease and HbC are examples, primarily inherited as autosomal recessive conditions.

Iron Deficiency Anemia

Characterized by insufficient iron levels, often due to dietary deficiency, blood loss, or increased demand.
This can result in a microcytic and hypochromic anemia.
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive condition making treatment challenging.

Aplastic Anemia and Bone Marrow Failure Syndromes

Defined by pancytopenia (low red blood cell, white blood cell, and platelet counts).
Rare but serious disorder where bone marrow fails to produce enough new blood cells (often related to bone marrow damage rather than defects and mutations in blood cell production).
Congenital (inherited) and acquired forms exist, with acquired forms often linked to external factors (radiation, chemicals, drugs, viruses).

Fanconi Anemia

A congenital (inherited) bone marrow failure syndrome, that affects DNA repair mechanisms, increasing risk of cancer, specifically leukemia.
Characterized by pancytopenia (low counts), congenital abnormalities (physical features), and an increased risk of cancer.
Inheritance is autosomal recessive.

Non-Fanconi Anemia Bone Marrow Failure Syndromes

Includes conditions such as Shwachman-Diamond syndrome, Diamond-Blackfan anemia, congenital dyserythropoietic anemia, and dyskeratosis congenita.

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Description

This quiz provides an overview of anemia, including its definitions, symptoms, and classifications into inherited and acquired forms. Additionally, it explores subtypes of anemia such as hemolytic, iron-deficiency, and folate-deficiency anemia. Test your knowledge on the causes and effects of this medical condition.