hemoglobinopathy


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Related to hemoglobinopathy: Hemoglobin electrophoresis

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).

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē),
A disorder or disease caused by or associated with the presence of abnormal hemoglobins in the blood, for example, sickle cell disease, hemoglobin C, D, E, H, or I disorders. Occasionally, combinations of abnormal hemoglobins are seen in hemoglobinopathies.
[hemoglobin + G. pathos, disease]

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.

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 and C 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. 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

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  

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē)
A disorder or disease caused by or associated with the presence of hemoglobins in the blood.
Synonym(s): haemoglobinopathy.
[hemoglobin + G. pathos, disease]

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē)
A disorder or disease caused by or associated with the presence of hemoglobins in the blood.
Synonym(s): haemoglobinopathy.
[hemoglobin + G. pathos, disease]

hemoglobinopathy

(hē´mōglō´bin-op´əthē),
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.
References in periodicals archive ?
Our patient was white and Turkish and had no hemoglobinopathy.
Similarly a study conducted by Mesbahudin et al19 in Bangladesh the most common hemoglobinopathy was Beta thalassemia trait (21.
4) Hemoglobinopathy Screening Center, Child, and Family Planning, Department of Health of Mother, Kocaeli, Turkey
The study sample comprised the couples attending to the Mother and Child Health Care Center in Hatay for premarital hemoglobinopathy screening from 2004 to 2009.
An alternative and less expensive algorithm is to screen new patients for hemoglobinopathy by utilizing HPLC HbA1c.
Development of an automated package for trypsin digestion, MSMS, and data analysis for combined adult and newborn screening (1) should facilitate efficient and cost-effective delivery of population hemoglobinopathy screening programs.
Human pythiosis associated with thalassemia hemoglobinopathy syndrome.
Thalassemia Trait Thalassemia Major Hemoglobinopathy Genotype Genotype [Alpha]-Thalassemia --/[Alpha][Alpha] --/-- [Beta]-Thalassemia [[Beta].
Newborn hemoglobinopathy screening currently is performed in 43 states, the District of Columbia, Puerto Rico, and the Virgin Islands.
hemoglobinopathy, gout, Waldenstrom's Macroglobulinemia).
Moreover, the general incidence of thalassemia trait and sickle cell hemoglobinopathy in India varies between 3%-17% [2] and 0%-40%.
INTRODUCTION: Sickle cell disease is a common hereditary hemoglobinopathy resulting from a mutant version of the [beta]-globin gene and defined by the presence of hemoglobin S (HbS).