Hematologic findings (complete blood count and blood smear) associated with selected beta globin variants

Condition and type of beta globin variant	Hemoglobin level	Blood smear findings	RBC indices	Reticulocyte percentage
Normal Hb AA	12 to 14 g/dL	Normocytic Normochromic	MCV: 95 to 90 fL MCHC: 32 to 36 g/dL	1 to 2%
Beta thalassemia trait Hb A/β⁰ or A/β⁺	10 to 12 g/dL	Target cells Poikilocytes Elliptocytes Hypochromia Basophilic stippling	MCV: 60 to 70 fL MCHC: 27 to 36 g/dL	1 to 3%
Non-transfusion-dependent beta thalassemia (NTDT) Hb β⁰/β⁺ or β⁺/β⁺	7 to 10 g/dL	Target cells Poikilocytes Elliptocytes Hypochromia	MCV: 50 to 65 fL MCHC: 25 to 30 g/dL	2 to 4%
Transfusion-dependent beta thalassemia (TDT) Hb β⁰/β⁰ or β⁰/β⁺ (CBC findings reflect pre-transfusion parameters)	3 to 7 g/dL	Target cells Poikilocytes Elliptocytes Hypochromia Nucleated RBCs	MCV: 50 to 60 fL MCHC: 25 to 30 g/dL	<1%
Hb S variants
Sickle cell trait Hb AS	12 to 14 g/dL	Normocytic Normochromic	MCV: 95 to 90 fL MCHC: 32 to 36 g/dL	1 to 2%
Sickle cell anemia Hb SS	6 to 10 g/dL	Sickle forms Target cells Spherocytes Elliptocytes Contracted cells	MCV: 75 to 90 fL MCHC: 31 to 37 g/dL	5 to 20%
Sickle-beta⁰ thalassemia Hb S-β⁰	7 to 11 g/dL	Sickle forms Target cells Poikilocytes Elliptocytes Hypochromia	MCV: 60 to 70 fL MCHC: 27 to 31 g/dL	5 to 10%
Sickle-beta⁺ thalassemia Hb S-β⁺	8 to 12 g/dL	Possibly sickle forms Target cells Poikilocytes Elliptocytes Hypochromia	MCV: 60 to 70 fL MCHC: 27 to 31 g/dL	2 to 5%
Hb SC disease Hb SC	9 to 14 g/dL	Possibly sickle forms Target cells Spherocytes Contracted cells	MCV: 65 to 85 fL MCHC: 34 to 38 g/dL	2 to 5%
Hb SD disease Hb SD	6 to 10 g/dL	Sickle forms Target cells Spherocytes Elliptocytes Contracted cells	MCV: 75 to 90 fL MCHC: 31 to 37 g/dL	5 to 20%
Hb SE disease Hb SE	9 to 14 g/dL	Possibly sickle forms Target cells Spherocytes Contracted cells	MCV: 65 to 85 fL MCHC: 34 to 38 g/dL	1 to 4%
Hb C variants
Hb C trait Hb AC	12 to 14 g/dL	Possibly target cells Contracted cells	MCV: 70 to 85 fL MCHC: 31 to 37 g/dL	1 to 2%
Hb C disease Hb CC	10 to 12 g/dL	Target cells Spherocytes Contracted cells Hb crystals	MCV: 55 to 75 fL MCHC: 34 to 38 g/dL	2 to 4%
Hb C-beta thalassemia Hb C-β⁺ or C-β⁰	7 to 10 g/dL	Target cells Spherocytes Contracted cells Hypochromia	MCV: 5 to 75 fL MCHC: 27 to 31 g/dL	2 to 4%
Hb D variants
Hb D trait Hb AD	12 to 14 g/dL	Possibly target cells	MCV: 70 to 85 fL MCHC: 32 to 36 g/dL	1 to 2%
Hb D disease Hb DD	10 to 12 g/dL	Target cells Poikilocytes Elliptocytes Contracted cells	MCV: 65 to 85 fL MCHC: 25 to 30 g/dL	2 to 4%
Hb D-beta thalassemia Hb D-β⁺ or D-β⁰	5 to 9 g/dL	Target cells Poikilocytes Elliptocytes Hypochromia	MCV: 55 to 75 fL MCHC: 25 to 30 g/dL	2 to 4%
Hb E variants
Hb E trait Hb AE	12 to 14 g/dL	Possibly target cells Elliptocytes	MCV: 70 to 80 fL MCHC: 27 to 36 g/dL	1 to 2%
Hb E disease Hb EE	10 to 12 g/dL	Target cells Poikilocytes Elliptocytes Hypochromia	MCV: 55 to 75 fL MCHC: 25 to 30 g/dL	2 to 4%
Hb E-beta thalassemia Hb E-β⁺ or E-β⁰	5 to 9 g/dL	Target cells Poikilocytes Elliptocytes	MCV: 55 to 75 fL MCHC: 25 to 30 g/dL	4 to 6%

This table provides a general overview, but modifying factors such as concomitant alpha thalassemia trait in individuals with beta thalassemia may alter the hematologic parameters. Refer to UpToDate for details of the clinical manifestations, evaluation, and diagnosis of these conditions.

CBC: complete blood count; Hb: hemoglobin; MCHC: mean corpuscular hemoglobin concentration; MCV: mean corpuscular volume; RBC: red blood cell.

Courtesy of Clifford M Takemoto, MD, and Elliott P Vichinsky, MD. Prepared with data from: Bain BJ, Rees DC (Eds). Haemoglobinopathy Diagnosis, 4^th ed, Wiley-Blackwell 2024.

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Hematologic findings (complete blood count and blood smear) associated with selected beta globin variants