Hb Hope [β136(H14)Gly→Asp (GGT→GAT)]: Interactions with Hb S [β6(A3)Glu→Val (GAG→GTG)], Other Variant Hemoglobins and Thalassemia

John Ingle Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA

Adeboye Adewoye Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA

Robert Dewan Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA

Michael Okoli Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA

Lamarr Rollins Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA

Shawn H. Eung Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA

Hong‐yuan Luo Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA

David H. K. Chui Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA

Martin H. Steinberg Department of Medicine and Pathology, Division of Hematology/Oncology and the Center of Excellence in Sickle Cell Disease, Boston University School of Medicine, Boston, MassachusettsUSA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MassachusettsUSA; Center of Excellence in Sickle Cell Disease E248, Boston Medical Center, 88 E. Newton St., Boston, Massachusetts, 02118, USA

, M.D. show all

Abstract

Hb Hope [β136(H14)Gly→Asp (GGT→GAT)] was first described in an African–American family in 1965. Since then, it has been found in combination with several different globin gene mutations in many other families of divergent ethnic backgrounds. The basis for its relatively frequent occurrences remains unexplained. This variant hemoglobin (Hb) is mildly unstable and has reduced oxygen affinity, but is generally innocuous clinically. This variant Hb can present as a confounding factor in arriving at a correct diagnosis by either electrophoresis or high performance liquid chromatography (HPLC), particularly during the neonatal period. DNA‐based diagnostics can help solve this potential problem.

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Hb Hope [β136(H14)Gly→Asp (GGT→GAT)]: Interactions with Hb S [β6(A3)Glu→Val (GAG→GTG)], Other Variant Hemoglobins and Thalassemia

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Hb Hope [β136(H14)Gly→Asp (GGT→GAT)]: Interactions with Hb S [β6(A3)Glu→Val (GAG→GTG)], Other Variant Hemoglobins and Thalassemia

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