Evaluation of the peripheral blood smear - UpToDate
Oct 5, 2023 · The smear offers a window into the functional status of the bone marrow, the factory producing all blood elements. It is particularly important when assessing cytopenic states (eg, anemia, leukopenia, thrombocytopenia).
Diagnosis of sickle cell disorders - UpToDate
Oct 4, 2022 · Sickle cell disease (SCD) is an inherited group of disorders characterized by the presence of hemoglobin S (Hb S), either from homozygosity for the sickle mutation (Hb SS) or compound heterozygosity with another beta globin variant …
Hereditary stomatocytosis (HSt) and hereditary xerocytosis (HX)
Feb 16, 2024 · Hereditary stomatocytosis (HSt) and hereditary xerocytosis (HX) are rare disorders that cause variable hemolytic anemia and abnormal red blood cell (RBC) morphologies. Both are disorders of RBC hydration.
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Diagnosis of hemolytic anemia in adults - UpToDate
Jun 21, 2024 · Patients may also have evidence of RBC destruction including increased lactate dehydrogenase (LDH) and unconjugated bilirubin, decreased haptoglobin, and RBC shape changes on the peripheral blood smear. The causes of hemolytic anemia and a diagnostic approach to the adult with unexplained hemolytic anemia are discussed here.
Approach to the child with anemia - UpToDate
Jan 12, 2023 · Blood smear — A review of the peripheral smear is an essential part of any anemia evaluation. Even if the patient's RBC indices are within reference range, review of the blood smear may reveal abnormal cells that can help identify the cause of anemia.
Pathophysiology of sickle cell disease - UpToDate
Jun 25, 2024 · Homozygosity for Hb S or compound heterozygosity for Hb S and one of certain other HBB variants (including beta thalassemia) causes the phenotype of sickle cell disease (SCD), characterized by vaso-occlusive pain, organ damage, hemolytic anemia, inflammation, countless disease complications, and shortened survival.
Overview of the pulmonary complications of sickle cell disease
Aug 26, 2024 · Sickle cell anemia is caused by homozygous sickle mutation (Hb SS). The sickle mutation causes substitution of a valine for glutamic acid as the seventh amino acid of the beta globin chain. The resulting hemoglobin tetramer (alpha2/betaS2) is …
Methods for hemoglobin analysis and hemoglobinopathy testing
Apr 24, 2024 · The most common hemoglobinopathies include the thalassemias (alpha- and beta-) and sickle cell disease (SCD), but hundreds of abnormalities in the globin genes have been described. The diagnosis of hemoglobinopathies requires clear understanding of the genetics and structure of the globin chains and Hb.
RELATED TOPICS - UpToDate
Oct 7, 2024 · Anemia is among the most frequent laboratory abnormalities encountered by a practicing pediatrician. Anemia is caused by one of three broad mechanisms: decreased production of red blood cells (RBCs), increased loss of RBCs, or premature destruction (hemolysis) of RBCs.