IL7 : Disease Flashcards
(36 cards)
What mutation occurs in Hemoglobin E (Hb E)?
Codon 26 mutation in B-globin: Glutamic acid → Lysine
This mutation leads to a cryptic splice site that affects ß-globin mRNA, resembling ß*-thalassemia.
Where is Hemoglobin E (Hb E) very common?
Thailand
Hb E is particularly prevalent in Southeast Asian populations.
What are the characteristics of homozygous Hb E?
Mild chronic hemolytic anemia and target cells on peripheral smear
Target cells are indicative of certain hemoglobinopathies.
What distinguishes Hb H disease from Hb H-CS disease?
Hb H disease: –/-a; Hb H-CS disease: –/aCSa
The differences in genetic composition lead to variations in clinical severity.
What is a common characteristic of Hemoglobin S (Hb S)?
Common in African populations
Hb S is associated with sickle cell disease.
What happens to the a1-globin in Hb H disease?
Unstable & degraded
This instability contributes to the pathology of the disease.
What is the main consequence of the codon 26 mutation in Hemoglobin E?
It creates a cryptic splice site that resembles ß*-thalassemia
This affects the production of functional hemoglobin.
What type of anemia is associated with homozygous Hb E?
Mild chronic hemolytic anemia
This condition results from the abnormal structure of hemoglobin.
Fill in the blank: Hemoglobin E is characterized by a mutation at _______.
Codon 26
This specific mutation alters the amino acid sequence in the beta-globin chain.
True or False: Target cells are not typically seen in the peripheral smear of individuals with Hb E.
False
Target cells are a hallmark of certain hemoglobinopathies, including Hb E.
What does IL-10 target?
White blood cells
IL-10 is an anti-inflammatory cytokine that plays a role in regulating immune responses.
What is the significance of IL-6 in relation to RBC disorders?
It is involved in the pathology of red blood cell disorders
IL-6 is a cytokine that can influence the production and behavior of red blood cells.
What are hemoglobinopathies?
Genetic disorders affecting hemoglobin structure or production
Examples include sickle cell disease and thalassemia.
What mutation is associated with Hemoglobin S (Hb S)?
Codon 6 mutation in B-globin: Glutamic acid → Valine
This mutation leads to sickle cell anemia.
What happens to red blood cells when Hemoglobin S is deoxygenated?
It polymerizes and distorts RBC into sickle shape
This deformation causes various complications in sickle cell anemia.
What condition is caused by Hemoglobin S polymerization?
Sickle cell anemia
It leads to various health issues due to distorted red blood cells.
What are the consequences of Hb H disease?
Vaso-occlusive crises, pain, organ damage
Hb H disease is a form of alpha thalassemia characterized by the presence of excess beta globin.
Fill in the blank: Hemoglobin S is common in ______ populations.
African
This prevalence is due to the historical advantage against malaria.
What levels are affected in the context of hemoglobinopathies?
DNA level, mRNA level, Protein level
These levels are critical for understanding the genetic and biochemical basis of hemoglobin disorders.
What is the relationship between a1-globin and a2-globin?
They are types of globin chains that make up hemoglobin
Both are essential for proper hemoglobin function.
True or False: Hb H-CS disease results from a complete absence of alpha globin chains.
False
Hb H-CS disease involves a deficiency, not a complete absence.
What is Hemoglobin C (Hb C)?
A variant of hemoglobin caused by a point mutation at codon 6 of the ß-globin gene.
What is the mutation in Hemoglobin C?
Glutamic acid → Lysine.
Which population is Hemoglobin C common in?
People of African ancestry.
