There are two categories of hemoglobinopathy. In the first category, abnormal globin chains give rise to abnormal hemoglobin molecules. In the second category, normal hemoglobin chains are produced but in abnormal amounts.
In general, hemoglobinopathies are divided into those in which the gene abnormality results in a qualitative change in the hemoglobin molecule and those in which the change is quantitative.
Hemoglobinopathies are life-long disorders. The prognosis depends upon the exact nature of the mutation, the availability of effective treatment, as well as the individual's compliance
primary prevention involves carriers making reproductive decisions to prevent passage of the abnormal gene to their offspring
George R. Honig has written: 'Human hemoglobin genetics' -- subject(s): Familial & genetic, Genetic aspects, Genetic aspects of Hemoglobinopathy, Genetics, Hemoglobin, Hemoglobinopathies, Hemoglobinopathy, Hemoglobins, Human genetics
Hemophilia is not related to hemoglobin. It is a genetic disorder that affects the blood's ability to clot due to a deficiency in clotting factors. Hemoglobinopathies, on the other hand, are disorders related to the structure and production of hemoglobin.
Haemin crystals are needle-like structures that form when hemoglobin is oxidized and turns into methemoglobin. These crystals are commonly seen in blood smears from patients with certain types of hemolytic anemias or hemoglobinopathies. They are visualized under a microscope and their presence can aid in diagnosing these conditions.
Farba Balle Khodia Faye has written: 'Malaria resistance or susceptibility in red cells disorders' -- subject(s): Disease susceptibility, Hemoglobin polymorphisms, Hemoglobinopathies, Hemoglobinopathy, Hemoglobins, Immunity, Innate, Immunology, Innate Immunity, Malaria, Plasmodium, Plasmodium falciparum
The test that detects abnormal hemoglobin molecules is called hemoglobin electrophoresis. This laboratory technique separates different types of hemoglobin based on their electrical charge and size, allowing for the identification of various hemoglobin variants, such as those found in conditions like sickle cell disease or thalassemia. It is commonly used to diagnose and monitor hemoglobinopathies.
Presence of target cells may be due to: Breakdown of red blood cells (decreased osmotic fragility) Deficiency of an enzyme called lecithin cholesterol acyl transferase. Abnormalities of hemoglobin, the protein in red blood cells that carry oxygen (hemoglobinopathies).
Depletion of serum haptoglobin typically indicates hemolysis, the breakdown of red blood cells. In this condition, haptoglobin binds to free hemoglobin released from lysed erythrocytes, leading to a decrease in its serum levels. This can be associated with various clinical conditions, such as autoimmune hemolytic anemia, infections, or certain hemoglobinopathies. Monitoring haptoglobin levels can help in diagnosing and managing these conditions.
Seeing a hemoglobin specialist is essential for individuals with abnormal hemoglobin levels or disorders, such as sickle cell disease or thalassemia. These specialists possess in-depth knowledge of hemoglobinopathies, enabling them to provide accurate diagnosis, tailored treatment plans, and management strategies. They can also offer insights into genetic counseling and the latest research developments in the field. Additionally, their expertise can help improve overall patient outcomes and quality of life.
Sickle cells belong to the category of abnormal red blood cell morphology. Specifically, they are classified as sickle-shaped or crescent-shaped cells that result from the polymerization of hemoglobin S under low oxygen conditions. This abnormal shape can lead to complications such as vaso-occlusion and reduced oxygen delivery. Sickle cells are primarily associated with sickle cell disease and other hemoglobinopathies.