Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia. Anemia can result in feeling tired and pale skin. There may also be bone problems, an enlarged spleen, yellowish skin, and dark urine. Slow growth may occur in children.
The Dow University of Health Sciences (DUHS) is a public medical university located in the Urban metropolitan area of Karachi, Sindh, Pakistan. It was founded by Sir Hugh Dow, the then Governor of Sindh, in 1945.
Deferoxamine (DFOA), also known as desferrioxamine and sold under the brand name Desferal, is a medication that binds iron and aluminium. It is specifically used in iron overdose, hemochromatosis either due to multiple blood transfusions or an underlying genetic condition, and aluminium toxicity in people on dialysis. It is used by injection into a muscle, vein, or under the skin.
Alpha-thalassemia is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Normal hemoglobin consists of two alpha chains and two beta chains; in alpha-thalassemia, there is a quantitative decrease in the amount of alpha chains, resulting in fewer normal hemoglobin molecules. Furthermore, alpha-thalassemia leads to the production of unstable beta globin molecules which cause increased red blood cell destruction. The degree of impairment is based on which clinical phenotype is present.
Deferasirox, sold under the brand name Exjade & Asunra & Oleptiss both by Novartis among others, is an oral iron chelator. Its main use is to reduce chronic iron overload in patients who are receiving long-term blood transfusions for conditions such as beta-thalassemia and other chronic anemias. It is the first oral medication approved in the United States for this purpose.
Dr. Ruth K. M. Pfau Civil Hospital Karachi, commonly known as Civil Hospital Karachi, is a 1,900-bed tertiary care public hospital that imparts both undergraduate and postgraduate teaching and training.
Beta thalassemias are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated at one in 100,000. Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. The severity of the disease depends on the nature of the mutation.
The Liaquat National Hospital is located at Stadium Road, Karachi, Sindh, Pakistan.
A medical laboratory or clinical laboratory is a laboratory where tests are conducted out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease. Clinical Medical laboratories are an example of applied science, as opposed to research laboratories that focus on basic science, such as found in some academic institutions.
Hemosiderosis is a form of iron overload disorder resulting in the accumulation of hemosiderin.
Prathama Blood Centre is blood bank situated at Ahmedabad, jointly established in 2000, by Ahmedabad Municipal Corporation and Advanced Transfusion Medicine Research Foundation as non-profit voluntary organization. About 50,000 voluntary blood donors donate blood annually at Prathama which is India's first fully automated blood center.
Husaini Blood Bank (HBB) is a public health organization with its headquarter at Karachi and working for the welfare of the people of Pakistan via its sub offices and affiliated department/NGOs all over the country. HBB was founded in 1979 by Dr Hasan Ali Vajid with the establishment of Husaini Haematology and Oncology Trust inside his Clinic at Soldier Bazar Karachi through the support of Mr Hamid D. Habib, the chairman of Habib Trusts and started blood collection and donation at a very small scale.
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. CDA may be transmitted by both parents autosomal recessively or dominantly.
Nursing is a major component of Pakistan's health-care system. The topic has been the subject of extensive historical studies, is as of 2009 a major issue in the country, and has been the subject of much scholarly discussion amongst academics and practitioners. In 2009, Pakistan’s government stated its intent to improve the country's nursing care.
Treatment of the inherited blood disorder thalassemia depends upon the level of severity. For mild forms of the condition, advice and counseling are often all that are necessary. For more severe forms, treatment may consist in blood transfusion; chelation therapy to reverse iron overload, using drugs such as deferoxamine, deferiprone, or deferasirox; medication with the antioxidant indicaxanthin to prevent the breakdown of hemoglobin; or a bone marrow transplant using material from a compatible donor, or from the patient's mother. Removal of the spleen (splenectomy) could theoretically help to reduce the need for blood transfusions in people with thalassaemia major or intermedia but there is currently no reliable evidence from clinical trials about its effects. Population screening has had some success as a preventive measure.
Chhipa Welfare Association, commonly known as Chhipa, is a Pakistani non-profit welfare organization founded in 2007 by Ramzan Chhipa. It is headquartered in Karachi, Pakistan.
Cooley’s Anemia Foundation (CAF) is an American 501(c)(3) nonprofit organization that funds medical research and education to benefit individuals living with the genetic blood disorder thalassemia. The major form of this disorder is also known as Cooley's anemia.
Voluntary Health Services, popularly known as the VHS Hospital, is a multispecialty tertiary care referral hospital in the south Indian state of Tamil Nadu, reportedly serving the economically weaker sections of the society. It was founded in 1958 by Krishnaswami Srinivas Sanjivi, an Indian physician, social worker and a winner of Padma Shri and Padma Bhushan awards and is run by a charitable non governmental organization of the same name. The hospital is situated along Rajiv Gandhi Salai at Taramani, in Chennai.
Emergency medical services (EMS) in Pakistan are provided both by the government and private sector, with the latter being main a payment-for-service system. Healthcare falls under the responsibility of provincial governments, except for in the federally administered territories.
Transfusion-dependent anemia is a form of anemia characterized by the need for continuous blood transfusion. It is a condition that results from various diseases, and is associated with decreased survival rates. Regular transfusion is required to reduce the symptoms of anemia by increasing functional red blood cells and hemoglobin count. Symptoms may vary based on the severity of the condition and the most common symptom is fatigue. Various diseases can lead to transfusion-dependent anemia, most notably myelodysplastic syndromes (MDS) and thalassemia. Due to the number of diseases that can cause transfusion-dependent anemia, diagnosing it is more complicated. Transfusion dependence occurs when an average of more than 2 units of blood transfused every 28 days is required over a period of at least 3 months. Myelodysplastic syndromes is often only diagnosed when patients become anemic, and transfusion-dependent thalassemia is diagnosed based on gene mutations. Screening for heterozygosity in the thalassemia gene is an option for early detection.
