Anemias and Hemoglobinopathies

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Laboratory testing in anemias, hemoglobinopathies, and other heme disorders typically includes an initial workup with a CBC and peripheral smear. Depending on the suspected disorder, additional testing, such as iron studies or molecular testing, may be performed to confirm the diagnosis and exclude other etiologies.

Anemia

Initial evaluation includes CBC with platelet count and automated differential, a reticulocyte count and percent, along with a corrected reticulocyte count, and in some cases, review of a peripheral blood smear.

Hemolytic Anemias

Laboratory testing includes an initial evaluation for hemolysis, secondary testing to determine the etiology of hemolytic anemia, and, in some cases, molecular testing to confirm the diagnosis or determine recurrence risk.

Iron Deficiency Anemia

Initial testing typically includes an assessment of hemoglobin, hematocrit, and red blood cell indices such as mean corpuscular volume, followed by serum ferritin if hemoglobin is low.

Anemia of Chronic Disease - Anemia of Inflammation

Testing includes standard blood parameter measurements, a peripheral smear, iron studies, exclusion of other diagnoses, and possibly bone marrow biopsy.

Megaloblastic Anemia

Testing includes a CBC and peripheral smear, followed by testing for vitamin B12 and/or folate deficiency and antibody testing for pernicious anemia based on results.

Hemoglobinopathies

Identification of the underlying pathogenic hemoglobin variant or variants that lead to hemoglobinopathy involves laboratory testing and is important for treatment and genetic counseling.

Thalassemias

Laboratory testing includes screening and diagnosis via routine blood tests, structural hemoglobin (Hb) testing (eg, high-performance liquid chromatography or isoelectric focusing), and genetic testing.

Unstable Hemoglobinopathies

Laboratory testing for unstable hemoglobinopathies consists of an initial evaluation, specialized testing, and genetic testing.