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Beta thalassemia

Index Beta thalassemia

Beta thalassemias (β thalassemias) are a group of inherited blood disorders. [1]

91 relations: Alpha-thalassemia, Amino acid, Anemia, Asthma, Balearic Islands, Blood film, Blood transfusion, Chelation, Chipmunk, Chromosome, Chromosome 11, Circulatory system, Cirrhosis, Codocyte, Complete blood count, Compound heterozygosity, Corsica, Crete, CRISPR, Cyprus, Deferasirox, Deferiprone, Deferoxamine, Differential diagnosis, Dominance (genetics), Erythropoiesis, Europe, Ferritin, Gallstone, Gene, Gene therapy, GeneReviews, Genetic counseling, Genetic disorder, Greece, Greek Cypriots, Greek language, HBB, Heart failure, Hematocrit, Hematology, Hematopoietic stem cell transplantation, Hemoglobin, Hemoglobin A, Hemoglobin electrophoresis, Hemoglobinopathy, Hereditary persistence of fetal hemoglobin, Heterozygote advantage, High-performance liquid chromatography, Human leukocyte antigen, ..., Iron overload, Iron poisoning, Jaundice, List of islands in the Mediterranean, Liver, Liver cancer, Malaria, Malta, Mean corpuscular volume, Mediterranean race, Mediterranean Sea, Messenger RNA, Microcytic anemia, Mutation, Non-alcoholic fatty liver disease, Non-coding DNA, North Africa, Preimplantation genetic diagnosis, Prenatal testing, Protein, Red blood cell, Sardinia, Savior sibling, Serum (blood), Sicily, Sickle cell disease, Single-nucleotide polymorphism, Spleen, Splenectomy, Splenomegaly, Thalassa, Thalassemia, Thomas Benton Cooley, Total iron-binding capacity, Transcription (biology), Transferrin, Turkey, Turkish Cypriots, Urobilin, Weill Cornell Medicine, Western Asia. Expand index (41 more) »

Alpha-thalassemia

Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2.

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Amino acid

Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.

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Anemia

Anemia is a decrease in the total amount of red blood cells (RBCs) or hemoglobin in the blood, or a lowered ability of the blood to carry oxygen.

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Asthma

Asthma is a common long-term inflammatory disease of the airways of the lungs.

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Balearic Islands

The Balearic Islands (Illes Balears,; Islas Baleares) are an archipelago of Spain in the western Mediterranean Sea, near the eastern coast of the Iberian Peninsula.

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Blood film

A blood film—or peripheral blood smear—is a thin layer of blood smeared on a glass microscope slide and then stained in such a way as to allow the various blood cells to be examined microscopically.

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Blood transfusion

Blood transfusion is generally the process of receiving blood or blood products into one's circulation intravenously.

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Chelation

Chelation is a type of bonding of ions and molecules to metal ions.

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Chipmunk

Chipmunks are small, striped rodents of the family Sciuridae.

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Chromosome

A chromosome (from Ancient Greek: χρωμόσωμα, chromosoma, chroma means colour, soma means body) is a DNA molecule with part or all of the genetic material (genome) of an organism.

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Chromosome 11

Chromosome 11 is one of the 23 pairs of chromosomes in humans.

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Circulatory system

The circulatory system, also called the cardiovascular system or the vascular system, is an organ system that permits blood to circulate and transport nutrients (such as amino acids and electrolytes), oxygen, carbon dioxide, hormones, and blood cells to and from the cells in the body to provide nourishment and help in fighting diseases, stabilize temperature and pH, and maintain homeostasis.

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Cirrhosis

Cirrhosis is a condition in which the liver does not function properly due to long-term damage.

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Codocyte

Codocytes also known as target cells are red blood cells that have the appearance of a shooting target with a bullseye.

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Complete blood count

A complete blood count (CBC), also known as a complete blood cell count, full blood count (FBC), or full blood exam (FBE), is a blood panel requested by a doctor or other medical professional that gives information about the cells in a patient's blood, such as the cell count for each cell type and the concentrations of various proteins and minerals.

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Compound heterozygosity

Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state.

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Corsica

Corsica (Corse; Corsica in Corsican and Italian, pronounced and respectively) is an island in the Mediterranean Sea and one of the 18 regions of France.

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Crete

Crete (Κρήτη,; Ancient Greek: Κρήτη, Krḗtē) is the largest and most populous of the Greek islands, the 88th largest island in the world and the fifth largest island in the Mediterranean Sea, after Sicily, Sardinia, Cyprus, and Corsica.

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CRISPR

CRISPR is a family of DNA sequences in bacteria and archaea.

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Cyprus

Cyprus (Κύπρος; Kıbrıs), officially the Republic of Cyprus (Κυπριακή Δημοκρατία; Kıbrıs Cumhuriyeti), is an island country in the Eastern Mediterranean and the third largest and third most populous island in the Mediterranean.

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Deferasirox

Deferasirox (marketed as Exjade, Desirox, Defrijet, Desifer, Rasiroxpine and Jadenu) is an oral iron chelator.

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Deferiprone

Deferiprone (tradenames include Ferriprox) is a drug that chelates iron and is used to treat iron overload in thalassaemia major.

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Deferoxamine

Deferoxamine (DFOA), sold under the brand name Desferal, is a medication that binds iron and aluminium.

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Differential diagnosis

In medicine, a differential diagnosis is the distinguishing of a particular disease or condition from others that present similar clinical features.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Erythropoiesis

Erythropoiesis (from Greek 'erythro' meaning "red" and 'poiesis' meaning "to make") is the process which produces red blood cells (erythrocytes).

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Europe

Europe is a continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere.

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Ferritin

Ferritin is a universal intracellular protein that stores iron and releases it in a controlled fashion.

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Gallstone

A gallstone is a stone formed within the gallbladder out of bile components. The term cholelithiasis may refer to the presence of gallstones or to the diseases caused by gallstones. Most people with gallstones (about 80%) never have symptoms. When a gallstone blocks the bile duct, a crampy pain in the right upper part of the abdomen, known as biliary colic (gallbladder attack) can result. This happens in 1–4% of those with gallstones each year. Complications of gallstones may include inflammation of the gallbladder (cholecystitis), inflammation of the pancreas (pancreatitis), jaundice, and infection of a bile duct (cholangitis). Symptoms of these complications may include pain of more than five hours duration, fever, yellowish skin, vomiting, dark urine, and pale stools. Risk factors for gallstones include birth control pills, pregnancy, a family history of gallstones, obesity, diabetes, liver disease, or rapid weight loss. The bile components that form gallstones include cholesterol, bile salts, and bilirubin. Gallstones formed mainly from cholesterol are termed cholesterol stones, and those mainly from bilirubin are termed pigment stones. Gallstones may be suspected based on symptoms. Diagnosis is then typically confirmed by ultrasound. Complications may be detected on blood tests. The risk of gallstones may be decreased by maintaining a healthy weight through sufficient exercise and eating a healthy diet. If there are no symptoms, treatment is usually not needed. In those who are having gallbladder attacks, surgery to remove the gallbladder is typically recommended. This can be carried out either through several small incisions or through a single larger incision, usually under general anesthesia. In rare cases when surgery is not possible medication may be used to try to dissolve the stones or lithotripsy to break down the stones. In developed countries, 10–15% of adults have gallstones. Rates in many parts of Africa, however, are as low as 3%. Gallbladder and biliary related diseases occurred in about 104 million people (1.6%) in 2013 and they resulted in 106,000 deaths. Women more commonly have stones than men and they occur more commonly after the age of 40. Certain ethnic groups have gallstones more often than others. For example, 48% of Native Americans have gallstones. Once the gallbladder is removed, outcomes are generally good.

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Gene therapy

In the medicine field, gene therapy (also called human gene transfer) is the therapeutic delivery of nucleic acid into a patient's cells as a drug to treat disease.

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GeneReviews

GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases.

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Genetic counseling

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder (or may be carrying a child at risk) are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Greece

No description.

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Greek Cypriots

Greek Cypriots (Ελληνοκύπριοι, Kıbrıs Rumları or Kıbrıs Yunanları) are the ethnic Greek population of Cyprus, forming the island's largest ethnolinguistic community.

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Greek language

Greek (Modern Greek: ελληνικά, elliniká, "Greek", ελληνική γλώσσα, ellinikí glóssa, "Greek language") is an independent branch of the Indo-European family of languages, native to Greece and other parts of the Eastern Mediterranean and the Black Sea.

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HBB

Beta globin (also referred to as HBB, β-globin, haemoglobin beta, hemoglobin beta, or preferably haemoglobin subunit beta) is a globin protein, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, the HbA.

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Heart failure

Heart failure (HF), often referred to as congestive heart failure (CHF), is when the heart is unable to pump sufficiently to maintain blood flow to meet the body's needs.

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Hematocrit

The hematocrit (Ht or HCT), also known by several other names, is the volume percentage (vol%) of red blood cells in blood.

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Hematology

Hematology, also spelled haematology, is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood.

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Hematopoietic stem cell transplantation

Hematopoietic stem cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood.

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Hemoglobin

Hemoglobin (American) or haemoglobin (British); abbreviated Hb or Hgb, is the iron-containing oxygen-transport metalloprotein in the red blood cells of all vertebrates (with the exception of the fish family Channichthyidae) as well as the tissues of some invertebrates.

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Hemoglobin A

Hemoglobin A (HbA), also known as adult hemoglobin, hemoglobin A1 or α2β2, is the most common human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin.

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Hemoglobin electrophoresis

Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin.

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Hemoglobinopathy

Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule.

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Hereditary persistence of fetal hemoglobin

Hereditary persistence of fetal hemoglobin (HPFH, BrE: Hereditary persistence of foetal haemoglobin) is a benign condition in which significant fetal hemoglobin (hemoglobin F) production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced.

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Heterozygote advantage

A heterozygote advantage describes the case in which the heterozygous genotype has a higher relative fitness than either the homozygous dominant or homozygous recessive genotype.

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High-performance liquid chromatography

High-performance liquid chromatography (HPLC; formerly referred to as high-pressure liquid chromatography), is a technique in analytical chemistry used to separate, identify, and quantify each component in a mixture.

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Human leukocyte antigen

The human leukocyte antigen (HLA) system or complex is a gene complex encoding the major histocompatibility complex (MHC) proteins in humans.

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Iron overload

Iron overload (variously known as haemochromatosis, hemochromatosis, hemochromocytosis, Celtic curse, Irish illness, British gene, Scottish sickness and bronzing diabetes) indicates accumulation of iron in the body from any cause.

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Iron poisoning

Iron poisoning is an iron overload caused by a large excess of iron intake and usually refers to an acute overload rather than a gradual one.

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Jaundice

Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and whites of the eyes due to high bilirubin levels.

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List of islands in the Mediterranean

The following is a list describing the islands located in the Mediterranean Sea.

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Liver

The liver, an organ only found in vertebrates, detoxifies various metabolites, synthesizes proteins, and produces biochemicals necessary for digestion.

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Liver cancer

Liver cancer, also known as hepatic cancer and primary hepatic cancer, is cancer that starts in the liver.

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Malaria

Malaria is a mosquito-borne infectious disease affecting humans and other animals caused by parasitic protozoans (a group of single-celled microorganisms) belonging to the Plasmodium type.

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Malta

Malta, officially known as the Republic of Malta (Repubblika ta' Malta), is a Southern European island country consisting of an archipelago in the Mediterranean Sea.

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Mean corpuscular volume

The mean corpuscular volume, or mean cell volume (MCV), is a measure of the average volume of a red blood corpuscle (or red blood cell).

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Mediterranean race

The Mediterranean race (also Mediterranid race) is one of the sub-races into which the Caucasian race was categorised by most anthropologists in the late 19th to mid-20th centuries.

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Mediterranean Sea

The Mediterranean Sea is a sea connected to the Atlantic Ocean, surrounded by the Mediterranean Basin and almost completely enclosed by land: on the north by Southern Europe and Anatolia, on the south by North Africa and on the east by the Levant.

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Messenger RNA

Messenger RNA (mRNA) is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.

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Microcytic anemia

Microcytic anaemia is any of several types of anaemia characterized by small red blood cells (called microcytes).

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Non-alcoholic fatty liver disease

Non-alcoholic fatty liver disease (NAFLD) is one of the types of fatty liver which occurs when fat is deposited (steatosis) in the liver due to causes other than excessive alcohol use.

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Non-coding DNA

In genomics and related disciplines, noncoding DNA sequences are components of an organism's DNA that do not encode protein sequences.

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North Africa

North Africa is a collective term for a group of Mediterranean countries and territories situated in the northern-most region of the African continent.

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Preimplantation genetic diagnosis

Pre-implantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization.

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Prenatal testing

Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.

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Protein

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.

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Red blood cell

Red blood cells-- also known as RBCs, red cells, red blood corpuscles, haematids, erythroid cells or erythrocytes (from Greek erythros for "red" and kytos for "hollow vessel", with -cyte translated as "cell" in modern usage), are the most common type of blood cell and the vertebrate's principal means of delivering oxygen (O2) to the body tissues—via blood flow through the circulatory system.

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Sardinia

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Savior sibling

A savior baby or savior sibling is a child who is born to provide an organ or cell transplant to a sibling that is affected with a fatal disease, such as cancer or Fanconi anemia, that can best be treated by hematopoietic stem cell transplantation.

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Serum (blood)

In blood, the serum is the component that is neither a blood cell (serum does not contain white or red blood cells) nor a clotting factor; it is the blood plasma not including the fibrinogens.

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Sicily

Sicily (Sicilia; Sicìlia) is the largest island in the Mediterranean Sea.

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Sickle cell disease

Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.

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Single-nucleotide polymorphism

A single-nucleotide polymorphism, often abbreviated to SNP (plural), is a variation in a single nucleotide that occurs at a specific position in the genome, where each variation is present to some appreciable degree within a population (e.g. > 1%).

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Spleen

The spleen is an organ found in virtually all vertebrates.

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Splenectomy

A splenectomy is a surgical procedure that partially or completely removes the spleen.

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Splenomegaly

Splenomegaly is an enlargement of the spleen.

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Thalassa

In Greek mythology, Thalassa (Θάλασσα, "sea") was the primeval spirit of the sea.

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Thalassemia

Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production.

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Thomas Benton Cooley

Thomas Benton Cooley (June 23, 1871 – October 13, 1945) was an American pediatrician and hematologist and professor of hygiene and medicine at the University of Michigan and Wayne State University.

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Total iron-binding capacity

Total iron-binding capacity (TIBC) or sometimes transferrin iron-binding capacity is a medical laboratory test that measures the blood's capacity to bind iron with transferrin.

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Transcription (biology)

Transcription is the first step of gene expression, in which a particular segment of DNA is copied into RNA (especially mRNA) by the enzyme RNA polymerase.

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Transferrin

Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron (Fe) in biological fluids.

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Turkey

Turkey (Türkiye), officially the Republic of Turkey (Türkiye Cumhuriyeti), is a transcontinental country in Eurasia, mainly in Anatolia in Western Asia, with a smaller portion on the Balkan peninsula in Southeast Europe.

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Turkish Cypriots

Turkish Cypriots or Cypriot Turks (Kıbrıs Türkleri or Kıbrıslı Türkler; Τουρκοκύπριοι) are mostly ethnic Turks originating from Cyprus.

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Urobilin

Urobilin or urochrome is the chemical primarily responsible for the yellow color of urine.

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Weill Cornell Medicine

Weill Cornell Medicine is the biomedical research unit and medical school of Cornell University, a private Ivy League university.

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Western Asia

Western Asia, West Asia, Southwestern Asia or Southwest Asia is the westernmost subregion of Asia.

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Redirects here:

Beta thalassaemia, Beta-Thalassaemia, Beta-thalassemia, Beta-thalassemia major anemia, Cooley anaemia, Cooley anemia, Cooley's anaemia, Cooley's anemia, Thalassemia Minor, Thalassemia intermedia, Thalassemia major, Thalassemia minor, ß-thalassaemia major, ߺ thalassemia, Β-thalassaemia, Β-thalassemia.

References

[1] https://en.wikipedia.org/wiki/Beta_thalassemia

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