The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them.hemolytic anemia

Generally, this case study aims to known the different information regarding the inheritance of glucose-6- phosphate dehydrogenase deficiency from generation to generation. O know the principle behind the transmission of the disease from generation to generation, and to; O know the symptoms and causes of this disease and the possible treatments and medication that is available.

With this study, it will help people in diagnosing the deficiency and be more knowledgeable with regards to the different symptoms, causes and treatments. Understanding the concept of this deficiency would be beneficial to those person who has attacked by hemolytic anemia and wrong dosage of drugs will be given if they do not known that their family has the history of the deficiency.

This case study regarding glucose-6- phosphate dehydrogenase deficiency is only limited to the determination of the symptoms, medications or treatments used and construction of a pedigree analysis to illustrate the occurrences of this disease on the family of the subject.

O This case study was conducted on the 19 th day of August, 2013 at the Martin’s residence in Teacher’s Village, Science City of Muñoz, Nueva Ecija starting from 9:00am until 11:00am and; O another meeting is with the patient’s untie who has a child that is also positive to G6PD which is a biology teacher at Muñoz National High School, Science City of Muñoz, Nueva Ecija for the purpose of pedigree analysis.

A set of questionnaire was prepared for the patient to answer. O When was the deficiency diagnosed in your family, and in the child? O Are there any other family members of your family or relatives positive for the disease? O Are you aware that your family has a history of the deficiency? O Are you knowledgeable of the carriers of the deficiency that run in your family? O Are you aware of the cause and effect of the deficiency? O What are the signs and symptoms experienced by the patient? O Does the patient undergo treatment? O What are the treatments undergone by the patient? O What are the different food, drugs and chemicals that the patient avoided? O Is there a permanent cure for the disease? O What are the precautionary measures undertaken by the patient to limit the difficulties to be experienced? O What are the effects of the disease on the patient in their everyday activities? Your family’s act?

Dazzle Cane M. Martin, the youngest child of Mr. Dean Martin and Mrs. Emily Martin was born on May 16, 2007 and was undergone new born screening process after the day he was born. The patient who was diagnosed to had glucose-6-phosphate dehydrogenase deficiency after three weeks when the results come. New born screening was only introduced in 1996 (Padilla, 2003).

Among Mr. Martin’s children, Dazzle Cane was the only one positive for the glucose-6-phosphate dehydrogenase deficiency though in his relatives, one of his second cousins was also positive for G6PD, Randall Rem G. Urbano which the patient’s father and mother of Randall Rem Urbano was first cousins. However, their family late noticed the deficiency because the new born screening process only established in the fourth generation of their family. Moreover, Mrs. Felerma G. Urbano the mother of Randall Rem Urbano and Mr. Dean Martin father of Dazzle Cane, is a possible carrier of the X-linked recessive trait because they also experiencing some of the symptoms of the deficiency.

The pedigree analysis shows the positive occurrence of the deficiency in the fourth generation in their family through new born screening. However, symptoms of the deficiency somehow experienced by the other member of the family in late generation as the researchers have interviewed some of them.

G6PD deficiency can be considered as inactive, and the only thing that can trigger the deficiency is when the patient was introduced different foods and chemicals that can cause the expression of the symptoms like hemolytic anemia. But since Mr. and Mrs. Martin was informed by the doctors about the deficiency, they can help their child to live as normal as it.

Table 1. Foods that are contradicted among G6PD Deficient Individual Foods that are contraindicated among G6PD Deficient Individual Fava Beans Also called broad beans Blueberries (also applied to food products containing these) Red Wine Soya Foods (taho, tokwa, soy sauce) Legumes (arbitsuelas, garbanzos, kadyos, munggo) Tonic Water

Table 2. Drugs that must be Avoided by a G6PD Deficient Generic NameBrand Name Aceteline Anti-cancer drugs (some) Aspirin Chloramphenicol ChloroquineAntalar, Aralen, Chlorofoz, Clorkin Co-trimoxazole Bactrim, Septrin Dapsone DoxorubicinAdriblastina, Adriamycin FurazolidoneFuroxone, Furendia, F-zolidone Hydralazine Hydroxychloroquine Menthol

Methyldopa Mepacrine Nalidixic acidWintomylon Naphthalene Niridazole NitrofurantoinMacrodantin, Noriuran Phenacitin PhenazopyridineAmopen-Gu-Forie, Azo-Mandelamine Phenylhydrazine Primaquine Procainamide QuinidineKinidin SulfacetamideIsopto Cetapred, Blephamide Liquifilm Sulfamethoxazole Allibac, Bacidal, Baczole, Bactrim, Dhatrin, Groprim, Macromed, Mucorama, TS, Septrin, Trim S, Trizole Sulfanilamide Sulfapyridine Sulphasalazine Sulphonamides Thiazolesulfone Toluidine blue Trinitrotoluene Vitamin C (large doses) Vitamin KAquamephyton, Konakion

Chemicals that are contradicted among G6PD Deficient Individual NaphtaleneMothballs Methylene blue Table 3. Chemicals that are contradicted among G6PD Deficient Individual Since the deficiency is a genetic problem, there is no treatment or cure for it. However the expression of the deficiency can be easily avoided by simply removing the one which trigger the deficiency. The most common medical problem associated with glucose- 6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness and shortness of breath for which Dazzle Cane experienced it in his early childhood and also dark urine.hemolytic anemia

It also highly possible that the parents of the patient is infected with the deficiency because they said in the interview that they usually noticed symptoms that was like thier son’s when they were young, newborn screening method was not available back then so his family regarded of it as anemia. The second cousin of the patient is also infected with the deficiency with his mother as the carrier. The patient’s father and his second cousin’s mother are related as cousins. Thus, tracing the origin of the deficiency up to the grandparents of the patient’s parents.

Clinical analysis for the presence of G6PD deficiency should also be conducted in order to know whether the G6PD deficiency is really expressed in order to avoid misconceptions about the disease because it is mostly asymptomatic.

Appendix Fig. 3. The Patient and His Parent together with the Researchers