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Results: 8

1.

Complication Aspects

Used with diseases to indicate conditions that co-exist or follow, i.e., co-existing diseases, complications, or sequelae. [from MeSH]

MedGen UID:
223946
Concept ID:
C1171258
Pathologic Function
2.

Thalassemia

Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
21121
Concept ID:
C0039730
Disease or Syndrome
3.

beta Thalassemia

Beta-thalassemia (ß-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Individuals with thalassemia major have severe anemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anemia that only rarely requires transfusion. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis. [from GeneReviews]

MedGen UID:
2611
Concept ID:
C0005283
Disease or Syndrome
4.

Cooley's anemia

An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features. [from NCI]

MedGen UID:
283
Concept ID:
C0002875
Disease or Syndrome
5.

Beta-thalassemia major

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions. [from ORDO]

MedGen UID:
830821
Concept ID:
CN201484
Disease or Syndrome
6.

Beta thalassemia major

MedGen UID:
450546
Concept ID:
C0599528
Disease or Syndrome
7.

Male hypogonadism

Decreased functionality of the male gonad, i.e., of the testis. [from HPO]

MedGen UID:
504307
Concept ID:
CN000027
Finding
8.

Male hypogonadism

Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961). [from OMIM]

MedGen UID:
57480
Concept ID:
C0151721
Disease or Syndrome

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