Podcast
Questions and Answers
What percentage of Hemoglobin S (Hb S) would result in a positive solubility screening test?
What percentage of Hemoglobin S (Hb S) would result in a positive solubility screening test?
- 30%
- 40%
- 20% (correct)
- 10%
Which hemoglobin types and percentages are typically shown in hemoglobin electrophoresis for someone with Hb S?
Which hemoglobin types and percentages are typically shown in hemoglobin electrophoresis for someone with Hb S?
- Hb A = 60%, Hb S = 40% (correct)
- Hb A = 70%, Hb S = 30%
- Hb A = 80%, Hb S = 20%
- Hb A = 50%, Hb S = 50%
When are sickle cells typically seen in a peripheral blood smear?
When are sickle cells typically seen in a peripheral blood smear?
- During sickle cell crises (correct)
- Never present
- Only when there is severe dehydration
- Always present in individuals with sickle cell trait
What amino acid replaces glutamic acid at the 6th position of the β chain in Hemoglobin C disease?
What amino acid replaces glutamic acid at the 6th position of the β chain in Hemoglobin C disease?
Which statement is true regarding hemoglobin electrophoresis of Hemoglobin C (Hb C) at alkaline pH?
Which statement is true regarding hemoglobin electrophoresis of Hemoglobin C (Hb C) at alkaline pH?
What is the primary cause of alpha thalassemia?
What is the primary cause of alpha thalassemia?
Which type of thalassemia results from a defect in the rate of synthesis of beta chains?
Which type of thalassemia results from a defect in the rate of synthesis of beta chains?
How many genes are involved in making the alpha hemoglobin chain?
How many genes are involved in making the alpha hemoglobin chain?
Which thalassemia condition is also known as Cooley Anemia?
Which thalassemia condition is also known as Cooley Anemia?
Where is the gene for the beta chain located?
Where is the gene for the beta chain located?
What typically causes Beta Thalassemia?
What typically causes Beta Thalassemia?
Why doesn't beta thalassemia manifest at birth?
Why doesn't beta thalassemia manifest at birth?
What characterizes the silent carrier state of beta thalassemia?
What characterizes the silent carrier state of beta thalassemia?
Which genotype is associated with β thalassemia major?
Which genotype is associated with β thalassemia major?
What clinical severity is typically observed in individuals with the genotype β/βο?
What clinical severity is typically observed in individuals with the genotype β/βο?
In the pedigree chart, which condition does the first child exhibit?
In the pedigree chart, which condition does the first child exhibit?
Which classification of β thalassemia is associated with moderate anemia?
Which classification of β thalassemia is associated with moderate anemia?
What is the expected clinical severity in an individual with the genotype β+/β+?
What is the expected clinical severity in an individual with the genotype β+/β+?
What genotype does the mother in the pedigree chart have?
What genotype does the mother in the pedigree chart have?
What is the characteristic genotype of a silent carrier of β thalassemia?
What is the characteristic genotype of a silent carrier of β thalassemia?
Which child in the pedigree chart does not have any form of anemia?
Which child in the pedigree chart does not have any form of anemia?
What kind of anemia is characteristic of Beta-Thalassemia?
What kind of anemia is characteristic of Beta-Thalassemia?
Which type of cells are most commonly seen in the peripheral blood of Beta-Thalassemia patients?
Which type of cells are most commonly seen in the peripheral blood of Beta-Thalassemia patients?
What is a common complication of regular transfusions in Beta-Thalassemia patients?
What is a common complication of regular transfusions in Beta-Thalassemia patients?
Which hemoglobin type is most commonly elevated in Beta-Thalassemia patients?
Which hemoglobin type is most commonly elevated in Beta-Thalassemia patients?
What physical features are associated with Beta-Thalassemia?
What physical features are associated with Beta-Thalassemia?
Which of the following is not a hazard of transfusion treatment in Beta-Thalassemia?
Which of the following is not a hazard of transfusion treatment in Beta-Thalassemia?
What is the predominant cause of alpha thalassemia?
What is the predominant cause of alpha thalassemia?
How many alpha globin chain genes are located on chromosome 11?
How many alpha globin chain genes are located on chromosome 11?
What condition results from the presence of only one functional alpha globin gene?
What condition results from the presence of only one functional alpha globin gene?
Which clinical condition corresponds to the genotype aa/--?
Which clinical condition corresponds to the genotype aa/--?
What results from the absence of alpha chains during fetal life?
What results from the absence of alpha chains during fetal life?
Which genotype corresponds to Bart's hydrops fetalis syndrome?
Which genotype corresponds to Bart's hydrops fetalis syndrome?
What is a key characteristic of Beta-thalassemia?
What is a key characteristic of Beta-thalassemia?
Which of the following is NOT a lifestyle tip for managing thalassemia?
Which of the following is NOT a lifestyle tip for managing thalassemia?
Which type of red blood cells are affected in Sickle Cell Disease?
Which type of red blood cells are affected in Sickle Cell Disease?
When is World Thalassemia Day celebrated?
When is World Thalassemia Day celebrated?
Which disorder involves a gene deletion affecting only delta and beta genes?
Which disorder involves a gene deletion affecting only delta and beta genes?
What is the hemoglobin type predominantly found in homozygous cases of Delta Beta Thalassemia?
What is the hemoglobin type predominantly found in homozygous cases of Delta Beta Thalassemia?
Which condition is characterized by a gene deletion causing hemoglobinopathy and Bart's hydrops fetalis?
Which condition is characterized by a gene deletion causing hemoglobinopathy and Bart's hydrops fetalis?
Which type of thalassemia results from the presence of two altered HBB genes?
Which type of thalassemia results from the presence of two altered HBB genes?
What physical examination finding indicates hemolysis in thalassemia patients?
What physical examination finding indicates hemolysis in thalassemia patients?
Which of the following is a common symptom of thalassemia?
Which of the following is a common symptom of thalassemia?
Which parameter differentiates thalassemia from iron deficiency anemia in carrier states?
Which parameter differentiates thalassemia from iron deficiency anemia in carrier states?
What does a PB stained smear typically show in thalassemia major?
What does a PB stained smear typically show in thalassemia major?
What is a key clinical feature of beta thalassemia major?
What is a key clinical feature of beta thalassemia major?
Which lab finding is typical in thalassemia minor or trait?
Which lab finding is typical in thalassemia minor or trait?
What happens when brilliant cresyl blue stain is used for a prolonged period?
What happens when brilliant cresyl blue stain is used for a prolonged period?
Which staining method is based on the Kleihauer-Betke procedure?
Which staining method is based on the Kleihauer-Betke procedure?
Which of these conditions is diagnosed with the presence of only one gene producing alpha chains?
Which of these conditions is diagnosed with the presence of only one gene producing alpha chains?
What is a characteristic feature of the silent carrier state for β thalassemia?
What is a characteristic feature of the silent carrier state for β thalassemia?
Which condition results in a baby born with hydrops fetalis?
Which condition results in a baby born with hydrops fetalis?
Which of the following hemoglobins remains in cells when subjected to acid elution staining?
Which of the following hemoglobins remains in cells when subjected to acid elution staining?
What is the typical hemoglobin range observed in individuals with beta thalassemia minor?
What is the typical hemoglobin range observed in individuals with beta thalassemia minor?
Which of the following is characterized by mild microcytic, hypochromic anemia?
Which of the following is characterized by mild microcytic, hypochromic anemia?
Which feature is useful for differentiating HPFH from beta thalassemia?
Which feature is useful for differentiating HPFH from beta thalassemia?
Which characteristic appearance do RBCs exhibit in Hb H disease when stained with brilliant cresyl blue?
Which characteristic appearance do RBCs exhibit in Hb H disease when stained with brilliant cresyl blue?
What is the typical hemoglobin composition for an adult with Hemoglobin H Disease?
What is the typical hemoglobin composition for an adult with Hemoglobin H Disease?
Which type of beta thalassemia can occur with either heterozygous or homozygous mutations?
Which type of beta thalassemia can occur with either heterozygous or homozygous mutations?
Which condition is the most severe form of alpha thalassemia and is incompatible with life?
Which condition is the most severe form of alpha thalassemia and is incompatible with life?
Which diagnostic method is used to differentiate various forms of thalassemia and hemoglobinopathies?
Which diagnostic method is used to differentiate various forms of thalassemia and hemoglobinopathies?
Which hemoglobin types are increased in beta thalassemia intermedia?
Which hemoglobin types are increased in beta thalassemia intermedia?
Which of the following is NOT typically seen in a peripheral blood smear of someone with thalassemia major?
Which of the following is NOT typically seen in a peripheral blood smear of someone with thalassemia major?
Which clinical condition is related to the observation of marked bone changes due to expansion of marrow space?
Which clinical condition is related to the observation of marked bone changes due to expansion of marrow space?
In which condition are there usually no hematologic abnormalities and the diagnosis requires genetic mapping?
In which condition are there usually no hematologic abnormalities and the diagnosis requires genetic mapping?
What is a common differential diagnosis for beta thalassemia minor?
What is a common differential diagnosis for beta thalassemia minor?
Which beta thalassemia type typically requires transfusions only under stress conditions like pregnancy or infection?
Which beta thalassemia type typically requires transfusions only under stress conditions like pregnancy or infection?
What differentiates Alpha Thalassemia Trait from iron deficiency anemia?
What differentiates Alpha Thalassemia Trait from iron deficiency anemia?
Which of the following is a common presentation in infants with beta thalassemia major?
Which of the following is a common presentation in infants with beta thalassemia major?
Study Notes
Thalassemias
- Diverse group of disorders that manifest as anemia of varying degrees
- Result in defective production of globin chain of Hb molecule
- Distribution is worldwide
- May be either homozygous defect or heterozygous defect
- Globin chains are structurally normal, but have imbalance in production of the two types of globin chains
- Results in overall decrease in amount of Hb produced and may induce hemolysis
Types of Thalassemias
- Alpha (α) thalassemia: caused by defect in rate of synthesis of alpha chains
- Beta (β) thalassemia: caused by defect in rate of synthesis of beta chains
Genetics of Thalassemia
- Adult hemoglobin is composed of two alpha and two beta chains
- Alpha thalassemia usually caused by gene deletion; Beta thalassemia usually caused by point mutation
Alpha Thalassemia
- 4 genes are involved in making the alpha hemoglobin chain
- Classification of alpha thalassemia:
- Silent carrier state: deletion of one alpha gene
- Alpha thalassemia trait: deletion of two alpha genes
- Hemoglobin H disease: deletion of three alpha genes
- Bart's hydrops fetalis syndrome: deletion of four alpha genes
Beta Thalassemia
- 2 genes are involved in making the beta hemoglobin chain
- Classification of beta thalassemia:
- Beta thal minor/trait: heterozygous genotype
- Beta thal intermedia: homozygous genotype
- Beta thal major: homozygous genotype with two mutated beta-globin genes
Characteristics of Beta Thalassemia
- Severe microcytic, hypochromic anemia
- Peripheral blood smear shows:
- Markedly hypochromic, microcytic erythrocytes
- Extreme poikilocytosis
- Target cells, teardrop cells, and elliptocytes
- Basophilic stippling and numerous NRBCs
- High reticulocyte count (2-8%)
- Most of hemoglobin present is Hb F with or without slight increase in HbA2
Complications of Beta Thalassemia
- Excessive number of transfusions results in iron overload and hemosiderosis
- Without iron chelation, patients develop cardiac disease
Treatment of Beta Thalassemia
- Transfusion is the main line of treatment
- Carries the following hazards:
- Development of iron overload
- Development of alloimmunization
- Risk of transfusion-transmitted diseases
Lifestyle Tips for Thalassemia
- Avoid excessive iron
- Eat a healthy diet
- Avoid infections
- Get annual flu shots and Hepatitis B vaccines
Other Defects in the Beta-Cluster Gene
- Delta Beta Thalassemia
- Hemoglobin Lepore
- Hereditary Persistence of Fetal Hemoglobin (HPFH)
Delta Beta Thalassemia
- Group of disorders due to gene deletion that removes or inactivates only delta and beta genes
- Clinically similar to beta thalassemia minor when heterozygous and beta thalassemia intermedia when homozygous
Hemoglobin Lepore
- Rare class of thalassemia caused by a gene deletion in a beta locus on the chromosome
- Characterized by a silent carrier, alpha thalassemia, hemoglobinopathy, and Bart's hydrops fetalis
World Thalassemia Day
- Celebrated on May 8th
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Description
Learn about thalassemias, a group of genetic disorders that affect the production of hemoglobin, leading to anemia and other complications. Understand the causes, types, and characteristics of thalassemias.
