What is hemoglobin defect?
Hemoglobin disorders (also known as hemoglobinopathies) are rare blood conditions that affect a person’s hemoglobin which is the protein in the blood that carries oxygen. They are inherited conditions that may change the shape or amount of red blood cells in the body.
What does an abnormal hemoglobin test mean?
A hemoglobin test measures the levels of hemoglobin in your blood. Hemoglobin is a protein in your red blood cells that carries oxygen from your lungs to the rest of your body. If your hemoglobin levels are abnormal, it may be a sign that you have a blood disorder. Other names: Hb, Hgb.
Which hemoglobin level is abnormal?
A low level of hemoglobin in the blood relates directly to a low level of oxygen. In the United States, anemia is diagnosed if a blood test finds less than 13.5 g/dL in a man or less than 12 g/dL in a woman. In children, normal levels vary according to age.
What is the alarming level of hemoglobin?
According to the American Association of Blood Banks, a hemoglobin level of 7 m/dL or below should indicate the need for a blood transfusion in people who are otherwise medically stable.
What causes abnormal hemoglobin?
Medical conditions that can cause high hemoglobin levels include: Polycythemia vera (the bone marrow produces too many red blood cells) Lung diseases such as COPD, emphysema or pulmonary fibrosis (lung tissue becomes scarred) Heart disease, especially congenital heart disease (the baby is born with it)
Are there genes that are defective in producing hemoglobin?
The genes are defective in the amount of hemoglobin they produce, but that which they produce (generally) is normal. The thalassemias are a complex group of disorders because of the genetics of hemoglobin production and the structure of the hemoglobin molecule.
What are structural defects in the hemoglobin molecule called?
Structural defects in the hemoglobin molecule. Alterations in the gene for one of the two hemoglobin subunit chains, alpha (a) or beta (b),are called mutations. Often, mutations change a single amino acid building block in the subunit.
What are the different types of hemoglobin disorders?
Hemoglobin disorders can be broadly classified into two general categories (as listed in Table 1): Those in which there is a quantitative defect in the production of one of the globin subunits, either total absence or marked reduction. These are called the thalassemia syndromes.
What do you need to know about hemoglobinopathies?
Hemoglobinopathies: Current Practices for Screening, Confirmation and Follow-up3 I. Executive Summary The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule.