Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 12

1.

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
2.

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
3.

Beta-plus-thalassemia

MedGen UID:
854234
Concept ID:
C3841475
Disease or Syndrome; Finding
4.

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
Finding
5.

Beta thalassemia major

MedGen UID:
450546
Concept ID:
C0599528
Disease or Syndrome
6.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Quantitative Concept
7.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
8.

Anemia of inadequate production

Increased destruction of erythrocyte precursors [from SNOMED CT]

MedGen UID:
95937
Concept ID:
C0392708
Pathologic Function
9.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
10.

Hemoglobinopathy

A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. [from MeSH]

MedGen UID:
42400
Concept ID:
C0019045
Disease or Syndrome
11.

Congenital hemolytic anemia

Hemolytic anemia due to various intrinsic defects of the erythrocyte. [from MeSH]

MedGen UID:
1919
Concept ID:
C0002881
Congenital Abnormality; Disease or Syndrome
12.

Hemolytic anemia

A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES). [from MeSH]

MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center