Haemoglobinopathies

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36 Questions

Which type of anaemia is caused by abnormal synthesis of haem?

Sideroblastic anaemia

Which type of anaemia is caused by abnormal synthesis of globin?

Thalassaemia

Which type of anaemia is characterized by abnormal haemoglobin structure?

Sickle cell anaemia

Which type of hemoglobin is present in higher levels in the fetus compared to adults?

Hemoglobin F

Which type of thalassemia is more common in the Mediterranean region?

Beta-thalassemia

What is the primary cause of abnormal β chain production in β-thalassemia?

Point mutations in chromosome 11

Which type of anaemia is also known as Cooley's anemia?

Thalassaemia major

Which of the following manifestations are seen in the first year of life in Thalassaemia major?

Recurrent bacterial infection

Which imaging finding is associated with extramedullary haemopoiesis in Thalassaemia major?

Hair on end appearance

Which of the following is a characteristic feature of Thalassaemia major?

Chipmunk's facie

Which hemoglobin component is increased in Thalassaemia major after 12 months of life?

Hemoglobin F

Which of the following manifestations is NOT seen in first year of life of Thalassaemia major?

Delayed growth and development

Which of the following features are characteristic of Chipmunk Facie in Thalassaemia major?

Depressed fracture of the nasal bone and frontal bossing

Which of the following laboratory findings is consistent with Thalassaemia major?

Decreased haemoglobin A

hich of the following terms describes the type of anemia observed in Thalassaemia major?

Microcytic hypochromic anemia

Which of the following interventions is considered a potential curative treatment for Thalassaemia major?

Bone marrow transplantation

Which of the following laboratory findings is consistent with Thalassaemia major?

Increased HbA2

Which of the following features is characteristic of Chipmunk Facie in Thalassaemia major?

All of the above

Which of the following statements is true about Thalassaemia intermedia?

It is caused by a combination of mild homozygous B- and a-thalassaemia

Which of the following is a characteristic feature of Thalassaemia trait?

It is a carrier state

Which of the following statements is true regarding α-Thalassaemia?

It is commonly found in the Far East region.

Which type of α-thalassaemia is characterized by the absence of alpha chain synthesis resulting in the production of only gamma chains?

Four-gene deletion

Which type of thalassaemia is associated with moderate anaemia, splenomegaly, and microcytosis on blood film examination?

Hb H (β4) disease

Which type of thalassaemia may or may not have anaemia, but shows microcytosis on blood film examination?

Two-gene deletion

Which type of thalassaemia is asymptomatic and shows normal blood picture and electrophoresis?

One-gene deletion

Which type of thalassaemia is associated with non-functional hemoglobin, resulting in death in utero or shortly after birth?

Hb Barts (ɣ4)

Which of the following is a clinical syndrome of sickle cell disease?

Hb SC

Which of the following is a characteristic feature of sickle cell trait?

Normal blood picture

Sickle Cell Anaemia is primarily caused by:

Point mutation in the gene that codes for β-globin chain

Which laboratory test is used as a screening method for sickle cell disease?

Sickle solubility test

What is the recommended prophylaxis for sickle cell disease from diagnosis to puberty?

Penicillin

Which of the following is the primary cause of sideroblastic anaemia?

Mutation in ɣ-aminolevulenic acid (ALA) synthase

What is the treatment for sideroblastic anaemia?

Blood transfusions

Which type of sideroblastic anaemia is responsive to thiamine and pyridoxal phosphate?

Hereditary X-linked

Which of the following is NOT a cause of secondary sideroblastic anaemia?

Myelodysplastic

What is the characteristic feature of abnormal erythroblasts in sideroblastic anaemia?

Ring of iron granules around their nuclei

Test your knowledge on haemoglobin abnormalities including sideroblastic anaemia, thalassaemia, and sickle cell anaemia. Learn about the abnormal synthesis of haem and globin in these conditions with this quiz.

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