Within the medical specialty of

hematology Hematology ( always spelled haematology in British English) is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood. It involves treating diseases that affect the produc ...

, Hemoglobin D-Punjab is one of the sub-variants of Hemoglobin D, a variant of

hemoglobin Hemoglobin (haemoglobin BrE) (from the Greek word αἷμα, ''haîma'' 'blood' + Latin ''globus'' 'ball, sphere' + ''-in'') (), abbreviated Hb or Hgb, is the iron-containing oxygen-transport metalloprotein present in red blood cells (erythroc ...

found in human blood. It is so named because of its higher prevalence in the

Punjab region Punjab (; Punjabi: پنجاب ; ਪੰਜਾਬ ; ; also romanised as ''Panjāb'' or ''Panj-Āb'') is a geopolitical, cultural, and historical region in South Asia, specifically in the northern part of the Indian subcontinent, comprising a ...

India India, officially the Republic of India (Hindi: ), is a country in South Asia. It is the List of countries and dependencies by area, seventh-largest country by area, the List of countries and dependencies by population, second-most populous ...

and

Pakistan Pakistan ( ur, ), officially the Islamic Republic of Pakistan ( ur, , label=none), is a country in South Asia. It is the world's List of countries and dependencies by population, fifth-most populous country, with a population of almost 24 ...

. It is also the most frequent abnormal hemoglobin variant in

Xinjiang Uyghur Autonomous Region Xinjiang, SASM/GNC: ''Xinjang''; zh, c=, p=Xīnjiāng; formerly romanized as Sinkiang (, ), officially the Xinjiang Uygur Autonomous Region (XUAR), is an autonomous region of the People's Republic of China (PRC), located in the northwest ...

China China, officially the People's Republic of China (PRC), is a country in East Asia. It is the world's List of countries and dependencies by population, most populous country, with a Population of China, population exceeding 1.4 billion, slig ...

. Studies indicate that Hemoglobin D-Punjab accounts for over 55% of the total

hemoglobin variants Hemoglobin variants are mutant forms of hemoglobin in a population, caused by variations in genetics. Some well-known hemoglobin variants such as sickle-cell anemia are responsible for diseases, and are considered hemoglobinopathies. Other varia ...

there. Hemoglobin D is a result of a mutation in the one or both of the Beta-chains that make up hemoglobin molecules. Having one gene effected is referred to as trait; having two is referred to as homozygous "disease" although the symptoms of this disease are mild. Hemoglobin D-Punjab was first discovered in the early 1950s in a mixed British and American family of Indian origin from the

Los Angeles Los Angeles ( ; es, Los Ángeles, link=no , ), often referred to by its initials L.A., is the largest city in the state of California and the second most populous city in the United States after New York City, as well as one of the world ...

area; hence it is also sometimes called “D Los Angeles”. Hemoglobin D is the 4th most common hemoglobin variant. It developed as a response to the selective pressures of malaria in these regions of Asia.

Hemoglobin D Trait

Hemoglobin is the main ingredient in red blood cells. Hemoglobin helps red blood cells carry oxygen from the lungs to other parts of the body. Normal red blood cells have hemoglobin A. People with hemoglobin D trait have red blood cells that have normal hemoglobin A (made up of normal alpha and beta chains) and abnormal hemoglobin D (made up of normal alpha chains and variant beta chains). People with hemoglobin D trait have slightly more hemoglobin A than hemoglobin D. The abnormal hemoglobin is called hemoglobin D. People with Hemoglobin D trait do not have health problems related to having the trait. People with hemoglobin D trait do not have Hemoglobin D ''disease'' or ''sickle cell disease''. They cannot develop these diseases later in life. While Hemoglobin D can be detected without a DNA test, one is needed to ascertain that a person who carries Hemoglobin D carries hemoglobin D-Punjab. There is no clinical disease detected, however children of affected individuals have increased risk of having Hemoglobin D Disease, Hemoglobin SD disease or

Beta-thalassemia Beta thalassemias (β 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 cl ...

Disease. Among the seven known types of Hemoglobin D, only Hemoglobin D Punjab can cause a serious hemoglobin disorder.

Symptoms

Even homozygous Hemoglobin D disease does not typically cause clinically significant symptoms. Occasionally it can cause mild haemolytic

anaemia Anemia or anaemia (British English) is a blood disorder in which the blood has a reduced ability to carry oxygen due to a lower than normal number of red blood cells, or a reduction in the amount of hemoglobin. When anemia comes on slowly, th ...

and mild

splenomegaly Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ) of the human abdomen. Splenomegaly is one of the four cardinal signs of ''hypersplenism'' which include: some reduction in number of circulatin ...

. The anemia usually occurs in the first few months of life, as fetal hemoglobin decreases and hemoglobin D increases. Hb D-Punjab becomes significant when it is co-inherited with Hb S or B thalassemia.

References

1. Tyagi S, Marwaha N, Parmar V, Basu S. Sickle cell hemoglobin-D Punjab disease (Compound Heterozygous state). Ind J Hematol Blood Transf 2000;18:31-2. 2. 3. http://www.idph.state.il.us/HealthWellness/fs/hemoglobin_d.htm 4. http://health.utah.gov/newbornscreening/Disorders/HB/Hb_D_Disease_DD/FactSheet_Provider_HbDD_En.pdf 5. www.chime.ucl.ac.uk/APoGI/data/rtf/hb/carriers/b/dp/carbook.rtf

External links

{{Medical resources , DiseasesDB = 29718 , ICD10 = {{ICD10, D, 58, 2, d, 55 , ICD9 = {{ICD9, 282.7 , ICDO = , OMIM = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = C032001 Hemoglobins Hemoproteins Blood proteins

Hemoglobin D Trait

Symptoms

See also

References

External links