How is HbH disease diagnosed?

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HbH disease should be considered in infants or children with mild-to-moderate microcytic hypochromic hemolytic anemia and hepatosplenomegaly. Heinz bodies can be detected on blood smears after cresyl blue staining. Hb biochemical analysis reveals the presence of HbH (5-30%). Diagnosis is confirmed by genetic testing.

What is HbH in blood?

Haemoglobin H (HbH) precipitates within red cells with the formation of inclusion bodies leading to shortened red cell survival.

Does alpha thalassemia have target cells?

Individuals with alpha thalassemia trait (-α/-α or –/αα) are asymptomatic, with a normal CBC. The peripheral blood smear typically shows hypochromia, microcytosis, and target cells. The MCV is frequently less than 80 fL, and the MCH is always below 27 pg. RBC counts are usually higher than normal.

What causes RBCs to be microcytic?

Microcytic anemia happens when something affects your bone marrow’s ability to create normal red blood cells. In some cases, microcytic anemia happens when you don’t have enough iron in your system or your body can’t absorb iron.

Which is the major hemoglobin found in the RBCs of patients with sickle cell trait?

The valine-type hemoglobin causes red cells to sickle when exposed to a low oxygen threshold.

What are the inclusion bodies in HBH disease composed of?

Heinz bodies (also referred to as “Heinz-Ehrlich bodies”) are inclusions within red blood cells composed of denatured hemoglobin. They are not visible with routine blood staining techniques, but can be seen with supravital staining.

What is MCV in alpha thalassemia?

Production of inadequate amounts of hemoglobin in alpha thalassemia results in the formation of red blood cells that are small (microcytic) and pale appearing (hypochromic), properties that are reflected in the CBC indices of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) respectively.

Why are target cells seen in thalassemia?

Presence of cells called target cells may be due to: Deficiency of an enzyme called lecithin cholesterol acyl transferase. Abnormal hemoglobin, the protein in RBCs that carries oxygen (hemoglobinopathies) Iron deficiency.

What diseases cause microcytic anemia?

The major causes of microcytic anemia in adults are iron deficiency, inflammatory disease, and thalassemia. The most common cause of microcytic anemia is iron deficiency.