Congenital sideroblastic anaemia definition of Congenital sideroblastic anaemia in the Free Online Encyclopedia.

a disturbance characterized by an increase in the quantity of porphyrins in the blood and tissues and by their increased excretion in the urine. Porphyria is a basic disturbance in the metabolism of pigments in man.

Congenital porphyria is caused by a hereditary block of the conversion of porphobilinogen to uroporphyrinogen in the erythrocytes, resulting in an accumulation of porphyrins in the blood, organs, and tissues. Acquired porphyria occurs with poisonings, such as those caused by lead or barbiturates; with hypovitaminosis (pellagra); with some types of anemia and liver disease; and with alcohol abuse and overdose of sulfanilamides. Many of these substances, such as barbiturates, can provoke attacks of congenital porphyria that are often fatal. Porphyria is manifested by skin lesions and by gastrointestinal, neurological, and mental disorders. The skin lesions are manifested by photodermatosis in areas of the body exposed to light, since the porphyrins accumulating in the skin have a pronounced photosensitizing effect. Porphyrin photodermatosis is characterized by edema and by inflammation of the skin with violet erythematous pigmentation. Necrosis followed by the formation of deforming scars develops in severe cases. Gastrointestinal disorders are manifested by attacks of intestinal colic, vomiting, and constipation. Paresis, paralysis, and emotional instability occur in neurological and mental disorders associated with porphyria. Manifestations of photodermatosis are generally absent in pronounced neurological disorders. In porphyria, the urine contains a large quantity of porphyrins (coproporphyrin I or uroporphyrin), which impart a bloodred color to the urine. Treatment varies with the cause of the disease.

REFERENCES

Shteinberg, M. A. Fotodermatozy. Moscow, 1958.
Brugsch, J. Porphyrine, 2nd ed. Leipzig, 1959.

V. A. FROLOV

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No references found	By using new technologies developed by the Human Genome Project, the molecular analysis team succeeded in defining a genomic region, which was suspected to inhabit the gene responsible for congenital sideroblastic anaemia in these families. Gene behind a rare form of congenital anaemia identified by Asian News International	confused sea Confusion confusion jamming confusion matrix confusion reflector conga Congaree National Park conge congé congelated congelifluction congelifraction congeliturbate congeliturbation congener congeneric congenic congenic strain congenital congenital agammaglobulinemia congenital anomaly congenital disease congenital disorder congenital heart disease congenital pathology Congenital sideroblastic anaemia conger conger eel congestin congestion congestive heart failure conging process Conglomerate conglomeratic mudstone conglutination conglutination phenomenon conglutinin Congo Congo Basin Congo eel Congo Independence Day Celebration Congo National Days congo red congo red test Congo Republic Congo River Congo, Belgian Congo, Democratic Republic of the Congo, kingdom of the Congo, Republic of the Congo-Brazzaville	congenital pouch colon congenital pouch colon congenital preauricular cyst congenital preauricular cyst congenital preauricular cyst Congenital problems Congenital problems congenital pulmonary arteriovenous fistula Congenital Pulmonary Lymphangiectasia Congenital Pulmonary Venous Stenosis congenital pyloric stenosis congenital reduced phalanges Congenital Reticular Ichthyosiform Erythroderma Congenital rubella Congenital Rubella Infection Congenital rubella syndrome Congenital rubella syndrome Congenital rubella syndrome Congenital rubella syndrome congenital scleral crescent Congenital scoliosis Congenital scoliosis Congenital scoliosis congenital seborrhea congenital seborrhea congenital seborrhea Congenital Self-Healing Histiocytosis Congenital Self-Healing Langerhans Cell Histiocytosis Congenital Self-Healing Reticulohistiocytosis congenital short neck syndrome Congenital sideroblastic anaemia Congenital Spear Cataract Congenital Spherocytosis Congenital Spherocytosis congenital spinal stenosis congenital spinal stenosis Congenital spondylolisthesis Congenital spondylolisthesis Congenital spondylolisthesis Congenital Stationary Night Blindness Congenital Stationary Night Blindness Type 2 Congenital Stationary Night Blindness, Type 1 Congenital stenosis of aortic valve congenital sternal foramina Congenital Stiff Man Syndrome Congenital Stiff Person Syndrome congenital strabismus congenital strabismus congenital strabismus congenital stridor congenital subluxation of the hip Congenital Sucrase-Isomaltase Deficiency congenital sucrose intolerance congenital sucrose intolerance congenital sucrose intolerance Congenital syndrome Congenital syndrome Congenital syndromes Congenital syndromes congenital syphilis congenital syphilis

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By using new technologies developed by the Human Genome Project, the molecular analysis team succeeded in defining a genomic region, which was suspected to inhabit the gene responsible for congenital sideroblastic anaemia in these families.

Gene behind a rare form of congenital anaemia identified by Asian News International

congenital pouch colon
congenital pouch colon
congenital preauricular cyst
congenital preauricular cyst
congenital preauricular cyst
Congenital problems
Congenital problems
congenital pulmonary arteriovenous fistula
Congenital Pulmonary Lymphangiectasia
Congenital Pulmonary Venous Stenosis
congenital pyloric stenosis
congenital reduced phalanges
Congenital Reticular Ichthyosiform Erythroderma
Congenital rubella
Congenital Rubella Infection
Congenital rubella syndrome
Congenital rubella syndrome
Congenital rubella syndrome
Congenital rubella syndrome
congenital scleral crescent
Congenital scoliosis
Congenital scoliosis
Congenital scoliosis
congenital seborrhea
congenital seborrhea
congenital seborrhea
Congenital Self-Healing Histiocytosis
Congenital Self-Healing Langerhans Cell Histiocytosis
Congenital Self-Healing Reticulohistiocytosis
congenital short neck syndrome

Congenital sideroblastic anaemia

Congenital Spear Cataract
Congenital Spherocytosis
Congenital Spherocytosis
congenital spinal stenosis
congenital spinal stenosis
Congenital spondylolisthesis
Congenital spondylolisthesis
Congenital spondylolisthesis
Congenital Stationary Night Blindness
Congenital Stationary Night Blindness Type 2
Congenital Stationary Night Blindness, Type 1
Congenital stenosis of aortic valve
congenital sternal foramina
Congenital Stiff Man Syndrome
Congenital Stiff Person Syndrome
congenital strabismus
congenital strabismus
congenital strabismus
congenital stridor
congenital subluxation of the hip
Congenital Sucrase-Isomaltase Deficiency
congenital sucrose intolerance
congenital sucrose intolerance
congenital sucrose intolerance
Congenital syndrome
Congenital syndrome
Congenital syndromes
Congenital syndromes
congenital syphilis
congenital syphilis

Porphyria (redirected from Congenital sideroblastic anaemia)

REFERENCES

Porphyria
(redirected from Congenital sideroblastic anaemia)