Histo Flashcards
What is the structure of the haemoglobin molecule?
The haemoglobin molecule is a tetramer of two globin chains linked with heme.
Example sentence: Hemoglobin is composed of two alpha and two beta chains.
What are the major globin chains in adults?
Paired α (141 amino acids) and paired β (146 amino acids).
No additional information.
What does each heme molecule bind?
A single haemoglobin molecule.
No additional information.
How are haemoglobinopathies typically inherited?
As autosomal co-dominant genes.
No additional information.
When do most haemoglobinopathies become symptomatic?
Most are asymptomatic until 3 – 9 months, except for α thalassemia, which is symptomatic in utero.
No additional information.
What are the five classes of haemoglobinopathies?
Structural haemoglobinopathies, Thalassemia syndromes, Thalassemic haemoglobin variants, Hereditary persistence of fetal haemoglobin, and Acquired haemoglobinopathies.
No additional information.
What is the prototype of structural haemoglobinopathies?
Sickle cell syndrome.
No additional information.
What causes sickle cell syndrome?
Substitution of valine for glutamic acid in the sixth amino acid of the β chain.
No additional information.
What is the effect of polymerization of sickle cell haemoglobin at low oxygen levels?
It causes the formation of fibrils (tactoids) that make the cell membrane rigid and less deformable.
No additional information.
What are the three main effects that manifest sickle cell disease?
Chronic extravascular haemolysis, microvascular occlusions with infarctions, and tissue damage.
No additional information.
What are the morphological changes in the bone due to sickle cell disease?
Bone marrow expansion with bone resorption, hyperplastic bone marrow, and extramedullary haematopoiesis in spleen and liver.
No additional information.
What are the common morphological features in the blood due to sickle cell disease?
Chronic anaemia with variable numbers of sickled cells and increased reticulocyte count.
No additional information.
What are the effects of sickle cell disease on the spleen?
In childhood, the spleen is enlarged with congested sinusoids. By early adulthood, it becomes fibrotic and shrunken due to repeated infarctions (autosplenectomy).
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What are thalassemias?
Genetic disorders resulting from defects in the synthesis of one or more of the globin chains.
No additional information.
What is the result of defective globin chain synthesis in thalassemias?
Inadequate hemoglobin production and imbalanced accumulation of the globin subunit, causing hypochromia and microcytosis with ineffective haematopoiesis.
No additional information.
What are the three clinical syndromes of β-thalassemias and their features?
β-Thalassemia major (severe, requires blood transfusions), β-Thalassemia intermedia (severe but does not require regular blood transfusions), and β-Thalassemia minor (asymptomatic with mild or absent anemia; red cell abnormalities seen).
No additional information.
What are the four clinical syndromes of α-thalassemias and their features?
Silent carrier (asymptomatic; no red cell abnormality), α-Thalassemia trait (asymptomatic, like β-thalassemia minor), HbH disease (severe; resembles β-thalassemia intermedia), Hydrops fetalis (lethal in utero without transfusions).
No additional information.
What is the pathogenesis of thalassemias?
Defective beta globin chain leads to accumulation of alpha chains in erythrocytes, causing membrane damage, apoptosis in the marrow, extravascular haemolysis, extramedullary haemopoiesis in the spleen, liver, and lymph nodes, enhanced iron absorption and storage, leading to secondary haemochromatosis and multiple organ failure.
No additional information.
What are the morphological changes in the bone due to thalassemias?
Skeletal abnormalities due to osteoporosis and marrow expansion, irregular fusion of epiphyses with shortened limbs, and pathological fractures.
No additional information.
What are the common morphological features in the bone marrow and blood due to thalassemias?
Bone marrow expansion with hyperplasia and cortical thinning, blood hypochromia and microcytosis with target cells and inclusions within the erythrocyte, and increased reticulocyte count.
No additional information.
What is the normal GFR percentage in diminished renal reserve?
50% of normal.
Example sentence: Diminished renal reserve is defined as a GFR of 50% of normal.
What symptoms are associated with renal insufficiency?
Azotemia, anemia, hypertension, polyuria, and nocturia.
These symptoms are commonly seen in patients with renal insufficiency.
Define haemoglobinopathies.
Disorders affecting the structure, function, or production of haemoglobin.
Haemoglobinopathies are a group of genetic disorders that impact the haemoglobin molecule.
What genetic pattern do haemoglobinopathies typically follow?
Autosomal co-dominant genes.
The inheritance pattern of haemoglobinopathies involves co-dominant autosomal genes.