hemoglobinopathy

hemoglobinopathy /he·mo·glo·bin·op·a·thy/ (-op´ah-the)

1. a hematologic disorder due to alteration in the genetically determined molecular structure of hemoglobin, such as sickle cell anemia, hemolytic anemia, or thalassemia.

2. sometimes more specifically, a hemoglobin disorder due to alterations in a globin chain, as opposed to the reduced or absent synthesis of normal chains in thalassemia.

---

he·mo·glo·bi·nop·a·thy (hm-glb-np-th)

n.

A disorder caused by or associated with the presence of abnormal hemoglobins in the blood.

---

hemoglobinopathy

[hē′mōglō′binop′əthē, hem′-]

Etymology: Gk, haima + L, globus, ball; Gk, pathos, disease

a group of inherited disorders characterized by structural variations of the hemoglobin molecule. An abnormality may occur in the heterozygous or the homozygous form. The alteration appears as the substitution of one or more amino acids in the globin portion of the molecule at selected positions in the two alpha or two beta polypeptide chains. Although more than 100 variants have been described, only hemoglobins S, C, and D are commonly seen. In the heterozygous form the normal adult pigment, hemoglobin A, and the variant both appear in the red cell. Little or no clinical manifestation of disease may be present. In the homozygous form only the variant hemoglobin is present, and the characteristic symptoms of that hemoglobinopathy appear. Mixed heterozygous forms are also known to occur. The normal hemoglobin A may be absent, and two or three hemoglobin variants may be present. Kinds of hemoglobinopathies include hemoglobin C disease, hemoglobin SC disease, and sickle cell anemia. Also spelled haemoglobinopathy. Compare thalassemia. See also hemoglobin, hemoglobin A, sickle cell thalassemia, sickle cell trait.

---

hemoglobinopathy [he″mo-glo″bĭ-nop´ah-the]

1. any hematologic disorder due to alteration in the genetically determined molecular structure of hemoglobin, with characteristic clinical and laboratory abnormalities, resulting in conditions such as hemolytic anemia, sickle cell anemia, or thalassemia.

2. sometimes more specifically, a hemoglobin disorder in which the amino acid sequence is altered, as opposed to thalassemia, in which there is reduced or absent synthesis of one or more normal polypeptide chain(s).

---

hemoglobinopathy

(hē´mōglō´bin-op´thē),
n a group of genetically determined diseases involving abnormal hemoglobin (e.g., sickle cell disease, in which hemoglobin S occurs, and hemoglobin C disease).

hemoglobinopathy, paroxysmal nocturnal,

n an acquired hemolytic anemia of unknown cause characterized by increased hemolysis during sleep, resulting in the presence of hemoglobin in the urine on awakening.

---

hemoglobinopathy

any hematological disorder due to alteration in the genetically determined molecular structure of hemoglobin, with characteristic clinical and laboratory abnormalities and often overt anemia. There are many such diseases in humans but none have yet been identified in animals.

---

hemoglobinopathy

Hematology A defect in either α or β hemoglobin, which may be quantitative or qualitative, congenital or–rarely —acquired; while the more common Hb defects–eg, HbS, HbC and thalassemias, cause a characteristic clinical picture, 'rare hemoglobin variants are variously ignored, misunderstood, misdiagnosed, feared, shunned or rejected.' and are not accompanied by clinical disease. See Hemoglobin C disease, Hemoglobin SC disease, Sickle cell anemia, Thalassemia.

Hemoglobinopathies–Major Biochemical Forms

Sickle Cell Hgb S

Sickle/C disease Hgb S, Hgb C

Hemoglobin C Disease Hgb C

Thalassemia major Hgb F

Thalassemia minor Hgb A2

Clinical presentations of hemoglobinopathy

Sickling phenotype, eg HbS, HbSC, HbS-Thalassemia

Thalassemic phenotype, eg Constant Spring, HbE, Lepore, Kenya, Vicksburg, Indianapolis

↑ oxygen affinity phenotype, eg Bristol, Bucuresti/Louisville, Caribbean, Etobicoke, Hammersmith, Moscva, Okaloosa, Peterborough, Seattle, Torino

↓ oxygen affinity phenotype, eg Altdorf, Istanbul, Baylor, Belfast, Boras, Buenos Aires, Cranston, Duarte, Djelfa, Freiburg, Geneva, Hopkins II, Koln, Lyon, Niteroi, Nottingham, Pasadena, Sabine, Santa Ana, St Louis, Shepherds Bush, Tak, Tours, Toyoake, Tübingen, Zürich