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An obligate carrier is an individual who may be clinically unaffected but who must carry a gene mutation based on analysis of the family history; usually applies to disorders inherited in an autosomal recessive and X-linked recessive manner.
Mothers who are Rh negative (A−, B−, AB−, or O− blood types) and have anti-D antibodies (found on the antibody screen) need to determine the fetus's Rh antigen. If the fetus is also Rh negative (A−, B−, AB−, or O− blood types) then the pregnancy can be managed like any other pregnancy.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Cell-free DNA can be used the determine the Rh antigen of the fetus when the mother is Rh negative. Blood is taken from the mother during the pregnancy, and using PCR, can detect the K, C, c, D, and E alleles of fetal DNA. This blood test is non-invasive to the fetus and is an easy way of checking antigen status and risk of HDN.
Beta thalassemia does not impact the production of the other forms of adult hemoglobin; HbA2 which forms 1.5%-2% of normal adult hemoglobin, and HbF which is normally present in small quantities. [8] Production of these forms of hemoglobin may increase as a consequence of stress erythropoiesis .
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
A carrier gets a normal gene to produce hemoglobin A, from one parent and the other parent supplies a gene which makes no hemoglobin A. [6] Delta-beta thalassemia is considered rare. [2] Delta-beta-thalassemia is caused by deletions of the entire delta and beta genes sequences and only gamma-globin and HbF are formed.
The significance of the sickle-cell trait is that it does not show any symptoms, nor does it cause any major difference in blood cell count. The trait confers about 30% protection against malaria [clarification needed] and its occurrence appears to have risen tremendously in Africa, India and the Middle East. Some findings also show the ...