Anemia
Anemia is a condition characterized by a lower-than-normal quantity of red blood cells in your blood. Additionally, anemia can manifest if your red blood cells lack a sufficient amount of hemoglobin, an iron-rich protein that imparts the red color to blood. Hemoglobin plays a crucial role in enabling red blood cells to transport oxygen from the lungs to various parts of the body. When you're anemic, your body doesn't receive an adequate supply of oxygen-rich blood, leading to feelings of fatigue or weakness. This condition may also present other symptoms such as shortness of breath, dizziness, or headaches. Prolonged or severe anemia has the potential to harm vital organs like the heart, brain, and other body tissues. In extreme cases, very severe anemia can even result in death.
Overview
Blood comprises various components, including red blood cells, white blood cells, platelets (pronounced PLATE-lets), and plasma (the liquid component of blood). Red blood cells exhibit a disc-shaped structure resembling doughnuts without holes in the center. Their primary functions involve carrying oxygen and eliminating carbon dioxide, a metabolic waste product, from the body. The production of these cells takes place in the bone marrow, a spongy tissue located within the bones.
Similarly, white blood cells and platelets (PLATE-lets) are also manufactured in the bone marrow. White blood cells play a crucial role in combating infections, while platelets adhere together to close small cuts or injuries in blood vessel walls, preventing excessive bleeding. In certain forms of anemia, an individual may experience reduced quantities of all three types of blood cells.
Anemia stems from three primary causes: blood loss, insufficient production of red blood cells, or elevated rates of red blood cell breakdown. These causes can be attributed to various factors such as diseases, medical conditions, or hereditary factors.
Outlook
Numerous forms of anemia are typically mild, short-term, and readily treatable, with some even preventable through a balanced diet. Dietary supplements can effectively address other types of anemia.
Nevertheless, specific types of anemia can be severe, persistent, and potentially life-threatening if not identified and addressed promptly. If you exhibit signs or symptoms of anemia, it is crucial to consult your doctor to determine if you have the condition. The course of treatment will be contingent upon the cause and severity of the anemia.
Chromosomes
Within the nucleus of every cell, the DNA molecule undergoes packaging into thread-like structures known as chromosomes. These chromosomes consist of DNA intricately coiled numerous times around proteins called histones, providing structural support.
Chromosomes remain unseen within the cell's nucleus, even under microscopic examination, when the cell is in a non-dividing state. However, during cell division, the DNA forming the chromosomes becomes densely packed and becomes visible under a microscope. Much of the knowledge researchers have about chromosomes stems from observations made during this crucial cellular process.
Each chromosome features a point of constriction known as the centromere, dividing the chromosome into two distinct sections, or "arms." The shorter arm is referred to as the "p arm," while the longer one is labeled the "q arm." The positioning of the centromere on each chromosome not only imparts a unique shape to the chromosome but also aids in describing the locations of specific genes.
Fetal Hemoglobin (Hgb.F)
A type of hemoglobin typically found in fetal (intrauterine) life possesses a distinct chemical composition compared to normal adult hemoglobin. Following birth, the fetal hemoglobin within red blood cells undergoes a gradual replacement by the adult form of hemoglobin, with this transition typically completed within the initial six months of life.
Gene
A gene stands as the fundamental unit of inheritance, housed within chromosomes. Genes play a pivotal role in determining a range of characteristics, encompassing attributes like hair texture, skin color, height, and facial features, including the type of hemoglobin present in red blood cells. Composed of DNA, genes serve as instructions for synthesizing molecules known as proteins. Human genes exhibit a size variance, ranging from a few hundred DNA bases to over 2 million bases. According to the Human Genome Project's estimation, humans possess approximately 20,000 to 25,000 genes.
Genetic Counseling
Genetic counseling involves specialized professionals assisting individuals in understanding genetic conditions, determining their likelihood of being affected by or having a family member with such conditions, and making informed choices regarding testing and treatment. This interaction between healthcare providers and clients prioritizes the provision of precise and current information about genetic disorders in a considerate, supportive, and non-directive manner.
Genetic Mutation
A genetic mutation refers to a lasting modification in the DNA sequence, constituting a change in hereditary traits due to a permanent alteration in a gene. This alteration causes the gene's sequence to deviate from the norm observed in most individuals. Mutations come in various sizes, ranging from affecting a single DNA building block (base pair) to influencing a substantial segment of a chromosome that encompasses multiple genes.
Hemoglobin
The chemical substance within red blood cells, an iron-containing protein, serves the purpose of transporting oxygen to the tissues and is responsible for imparting the characteristic red color to the cell.
Hemoglobin Electrophoresis
​A laboratory method used to identify the specific type of hemoglobin in an individual involves passing an electric charge through a hemoglobin solution. Various hemoglobins exhibit distinct mobility distances based on their composition. This technique allows for the differentiation between normal hemoglobin (A), sickle hemoglobin (S), and numerous other hemoglobin variants (such as C, D, E, etc.).
Inherit
To inherit specific defined traits from a parent through the transmission of genes in the egg and sperm.
Red Blood Cell
Red blood cells contribute significantly to your well-being by transporting fresh oxygen throughout the body. These cells, shaped like round discs with a flattish, indented center similar to doughnuts without a hole, contain hemoglobin and circulate throughout the body. Your healthcare provider can assess the size, shape, and overall health of your red blood cells through tests such as the complete blood count screening.
Sickle Cell Anemia
A hereditary condition affecting red blood cells, sickle cell anemia is characterized by an atypical form of hemoglobin—the red oxygen-carrying pigment of the cell. This unique hemoglobin leads to the creation of abnormally shaped cells that have a shortened lifespan in the bloodstream, resulting in anemia. The manifestation of sickle cell anemia occurs when an individual inherits the gene for sickle hemoglobin (S) from both parents.
Sickle Cell Disease
The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells. People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a person’s body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD. Other forms of Sickle Cell Disease include SC, CC, S Beta Zero thalassemia, S Beta+ thalassemia, SD, and SE.
Sickle Cell Trait
Inheriting one gene for normal hemoglobin (A) and one gene for sickle hemoglobin (S) results in sickle cell trait (AS). Individuals with sickle cell trait carry the sickle gene but do not manifest the disease, experience painful episodes, or generally show significant effects of sickle hemoglobin.
Thalassemia (Thal)
A hereditary condition affecting a gene in red blood cells, leading to a diminished capacity for hemoglobin production.
Unusual Hemoglobins
As of 1989, a total of 489 atypical hemoglobins had been identified. The most frequently observed uncommon hemoglobins, with a prevalence in the population exceeding 1%, include hemoglobins S (sickle), C, Thal, E, and D (Punjab).