At a Glance Compound heterozygosity for hemoglobins D-Los Angeles and S should be suspected in a patient with known sickle trait who has a moderate anemia (7-10 g/dL), an unexpectedly severe clinical picture, or a family history of the same. The patient’s peripheral smear shows sickle cells, target cells, and increased polychromasia. This combination of…
At a Glance Compound heterozygosity for Hemoglobin C and Hemoglobin S should be suspected in a patient with known sickle trait who has an unexpectedly severe clinical picture or who has a family history of the same. Patients with hemoglobin S-C follow a clinical course similar to, but milder than, Sickle Cell Anemia (see chapter…
At a Glance A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. Hemoglobin Köln is an inherited mutation in the ß-globin gene. It is predominantly confined to persons of German and Dutch descent. Hemoglobin Köln is an…
At a Glance A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. The Lepore hemoglobins are inherited mutations, resulting from δß-gene fusion products. Lepore-Boston is the only mutation to occur with any frequency and is mostly confined…
At a Glance A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. The hemoglobin O-Arab is an inherited mutation in the ß-globin gene. Persons of Balkan or North African black descent are more likely to carry this…
At a Glance A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. Hemoglobin G-Philadelphia can arise from one of two different mutations in the α-globin gene. Although both produce the same protein, the mutations occur in different…
At a Glance A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. Hemoglobin Ds are inherited mutations in the ß-globin gene, of which it is by far the most common is D-Los Angeles (also known as D-Punjab).…
At a Glance A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. Hemoglobin C is an inherited mutation in the ß-globin gene. Persons of West African descent are much more likely to carry this mutation, which is…
At a Glance A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. Hemoglobin E is an inherited mutation in the ß-globin gene. Persons of SE Asian decent frequently carry this mutation, which is the 4th most common…
At a Glance Sickle cell trait may be expected in any person with a family history of sickle cell trait or sickle cell disease. This mutation is commonly found in persons of African, Middle Eastern, or Mediterranean descent, but rare cases have been reported in most ethnic groups. It is found in approximately 8% of…
