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Hemoglobinopathy

Classification and external resources

ICD-10 D58.2

(http://apps.who.int/classifications/apps/icd/icd10online/?

gd55.htm+d582)

ICD-9 282.7 (http://www.icd9data.com/getICD9Code.ashx?

icd9=282.7)

DiseasesDB 19674

(http://www.diseasesdatabase.com/ddb19674.htm)

MeSH D006453

(http://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?field=uid&term=D006453)

HemoglobinopathyFrom Wikipedia, the free encyclopedia

(Redirected from Hemoglobinopathies)

Hemoglobinopathy is a kind of genetic

defect that results in abnormal structure of

one of the globin chains of the hemoglobin

molecule.[1] Hemoglobinopathies areinherited single-gene disorders; in most

cases, they are inherited as autosomal co-

dominant traits. [2] Common

hemoglobinopathies include sickle-cell

disease. It is estimated that 7% of worlds

population (420 million) are carriers, with

60% of total and 70% pathological being

in Africa. Hemoglobinopathies are most

common in ethnic populations from Africa,

the Mediterranean basin and Southeast

Asia.

Hemoglobinopathies imply structural abnormalities in the globin proteins themselves.[3] Thalassemias, in contrast,

usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. The two

conditions may overlap, however, since some conditions which cause abnormalities in globin proteins

(hemoglobinopathy) also affect their production (thalassemia). Thus, some hemoglobinopathies are also

thalassemias, but most are not.

Either hemoglobinopathy or thalasemia, or both, may cause anemia. Some well-known hemoglobin variants such a

sickle-cell anemia are responsible for diseases, and are considered hemoglobinopathies. However, manyhemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies,

because they are not considered pathologies. Hemoglobin variants are a part of the normal embryonic and fetal

development, but may also be pathologic mutant forms of hemoglobin in a population, caused by variations in

genetics. Other variants cause no detectable pathology, and are thus considered non-pathological variants.[4][5]

Contents1 Migration patterns

1.1 Migration patterns (Alkaline Electrophoresis)

1.2 Migration patterns (Acid Electrophoresis)

2 Hemoglobin Variants

3 Hemoglobinopathy and evolution

4 References

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Migration patterns

Migration patterns (Alkaline Electrophoresis)

In general on alkaline electrophoresis in order of increasing mobility are hemoglobins A2, E=O=C,

G=D=S=Lepore, F, A, K, J, Bart's, N, I, and H.

In general a sickling test (sodium bisulfite) is performed on abnormal hemoglobins migrating in the S location to seeif the red cells precipitate in solution.

Migration patterns (Acid Electrophoresis)

In general on acid electrophoresis in order of increasing mobility are hemoglobins F, A=D=G=E=O=Lepore, S,

and C.

This is how abnormal hemoglobin variants are isolated and identified using these two methods. For example a Hgb

G-Philadelphia would migrate with S on alkaline electrophoresis and would migrate with A on acid electrophoresis

respectively.

Hemoglobin Variants

Hb S

Hb C

Hb E

Hb D-Punjab

Hb O-Arab

Hb G-Philadelphia

Hb Hasharon

Hb Korle-Bu

Hb Lepore

Hb M

Hb Kansas (102 Asn>Thr)[6]

Hemoglobinopathy and evolution

Some hemoglobinopathies (and also related diseases like glucose-6-phosphate dehydrogenase deficiency) seem to

have given an evolutionary benefit, especially to heterozygotes, in areas where malaria is endemic. Malaria parasitelive inside red blood cells, but subtly disturb normal cellular function. In patients predisposed for rapid clearance of

red blood cells, this may lead to early destruction of cells infected with the parasite and increased chance of surviv

for the carrier of the trait.

References

1. ^ "hemoglobinopathy (http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?

pg=/ppdocs/us/common/dorlands/dorland/four/000048231.htm) " atDorland's Medical Dictionary

2. ^ Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Healt

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Organ. 2001;79(8):704-712.

3. ^ [http://web2.airmail.net/uthman/hemoglobinopathy/hemoglobinopathy.html Hemoglobinopathies and Thalassemi

4. ^ "Hemoglobin Variants" (http://www.labtestsonline.org/understanding/analytes/hemoglobin_var/glance-3.html) .

Lab Tests Online. American Association for Clinical Chemistry. 2007-11-10.

http://www.labtestsonline.org/understanding/analytes/hemoglobin_var/glance-3.html. Retrieved 2008-10-12.

5. ^ Huisman THJ (1996). "A Syllabus of Human Hemoglobin Variants"

(http://globin.cse.psu.edu/html/huisman/variants/) . Globin Gene Server. Pennsylvania State University.

http://globin.cse.psu.edu/html/huisman/variants/. Retrieved 2008-10-12.

6.^

Joseph Bonavetura and Austin Riggs, March 1968, "Hemoglobin Kansas, A Human Hemoglobin with a NeutralAmino Acid Substitution and an Abnormal Oxygen Equilibrium", The Journal of Biological Chemistry, Vol. 243,

No. 5, Issue of March 10, pages 980-991.

Retrieved from "http://en.wikipedia.org/wiki/Hemoglobinopathy"

Categories: Hereditary hemolytic anemias | Disorders of globin and globulin proteins

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