SICKLE CELL ANEMIA - A Genetic Disorder

1.INTRODUCTION & HISTORY OF SICKLE CELL ANEMIA --- 1. the disease  sickle cell anemia discovered  by William Winter in 1910 . the origine of mutation thot leads to sickle cell gene was initially thought to be in the Arabiciun penisula . 2. PATHAPYSIOLOGY & PATHAPYSIOLOGY OF SICKLE CELL ANEMIA ---  Pathophysiology sickle cell Anemia caused by point mutation in B - globin chain of hoemoglobin . The amino acid  glutamic acid on B - globin chain of hoemoglobin was replaced with hydrophobic amino acid valine of the sixth_position the A - globin gene found on the short arm of chromosome 11 . The association of two mutant B - globin subunites forms haemoglobin s ( Hbs ) under low O2 condition the absence of polar amino acid on sixth position of B - globin chain promotes the non- covalent polymerization of haemoglobin which result into sickle shape of RBCs and decrease their elasticity . The low Oxygen tension result into repeated episodes of sickling damage of cell membrore and decrease in elasticity . Normal cells are quite elastic which allow the cell to deform to pass through capilleries. The sickle cells fails to return to normal shape when normal O2 tension restored. As result cell ( sickle shaped ) pass through the narrow capilleries.There is destruction RBC inside the spleen because the mishapes. The rate of production of RBC inside the bone marrow does not match the rate of destruction inside the spleen. life span of normal RBC 90 - 120 days while the life span of defected sickle RBCs - 10 - 20 days. 3.GENETICS OF SICKLE CELL ANEMIA ---  This genetic disorder caused due to mutation of single nucleotide from- GAG to GIG codon mutation secondary, tertiory and quaternary structure of hoemoglobin. There are two types of sickle cell anemia Heterozygoues and Homozygoes . 4. DISTINGUISHED BETWEEN HETEROZYGOUS & HOMOZYGOUS ---                                  Heterozygos (HbS / H6 ^) 1. The individual having an HIA and one Hbf gene i one sickled cell gene and one nomal such people carrier for disease 2. Normal alleles able to produce over 50t- of Hb (normal) 3. Symptoms if they are deprived of O2 while severally dehydrated.                                             Homozygous (HS / HBS) The individual having both HES alleles gens. in both sickled cell genes. such people are sufferar for disease. 2.due to affected of both alteles does not produce normal hemoglobin. 3. Symptoms due to the presence of long chain polymere of Hbs destort the shape of RBC is sickled shaped.                                                                                                                                             The alleles are responsible for sickle cell anemia is autosomal recessive found on the short arm of chromosome II. The sickle cell anemia inherited from porents to offsprings The some ways are i) four blood type ii) hair color and texture iii) Eye colour traits. The type of heamoglobin making in RBC of person dependent upon which heamoglobin. gene is inherited from his parents conditions are follows 1. If one parent has sickle cell anemia (55) and other carrier (AS) 1) 50% chance to get child having sufferar for disease (ss). 2) 50% chance to get child having carrier for disease (AS) The child having one normal gene HbA and one defective gene Hbf alleles remains healthy but can pass the disease called as cartier. The carriers can produce few sickle shaped RBC only and not causes symptoms hence carrier also get resistance from maleria hence Heterozygoes have higher fitness than homozygoes S called as advantage of heterozygous.                   5. REALATION BETWEEN MALERIA & SICKLE CELL ANEMIA --- The malerial parasite plasmodium have complex life cycle and spend it's part in human erythraydes i.e. RBC ". The sporozoite condition of plasmodium enter the body of individual, If individual (HbA / HbS) carrier for disease, when a plasmodium (sporozoite) enters the blood following events occures in RBCs of individual. (1) When infectious stage of plasmodium i.e. sporozoites enter in RBCs, (f) The defective hemoglobin present in  due to (HBS) alleles (i) when sporozoite rupture RBC_permaturely but defective hoemoglobin in RBC inhabit or unable the plasmodium (sporozoite) asexually reproduction proccess to form merozortes (next stage of plasmodium, (4). ) This result into the non - destruction breakdown of affected (Hb) RBCs hence the formation of haemozoin not takes place result into non occurance of event of High fever and chilling (Hence individual having carrier or sufferer for sickle cell anemia does not cause maleria.                                                          6. CLINICAL SIGN & SYMPTOMS OF SICKLE CELL ANEMIA --- 1. Hemolytic crisis 1) Haemoglobuneria B) Oliguria 2 ii) Urine may be dark in color due to presence of urobilinogen  1) Massive pooling of RBC in visceral organs 2) Splenomegaly, speneoctomy  in hypersensitivity condition.  3. Immuno deficiency i) decrease in the number of antibodies against antigen.  ii) Loss of splenic function the genotype characterized by more rapid haemolysis.  4. Chlornic and hoaemolytic anemia i) Chlornic and haemolytic anemia is a hallmark of sickle cell disease.  vi) deficiency of folic acid and zinc vii) 5. Neurological complications 1. ischaemic attacks 7. Seizures cerebral infraction 8. Vestibular dysfunction 3. Cerebral haemorrhage 9. Sensory hearing loss.  4. unexpected coma 5. CNS infection 6. Spinal coard infraction comprassion .                                                            6. Acute chest syndrome 1. Dyspnea 2. chest pain 3. less commenly abdominal pain 4 fever tachypnea 5. Luecocytosis 6. Pulmonary infilturale 1. Non - cardiogenic pulmonoty edema 8. bone marrow infection 9. dangerous acute chest syndrome i.e. hypoximo + Haepotic Complications 1. Haepatomegaly 2. Transfusional bernosiderosis 3.  8). Renal Complications 1. Mudullary and distal tubular proximal tubular, gtomecular abnormalities 2. Papillary infraction 3. Hematuria 4. Incomplete renal tubular audosis 5. Consumption potassium metabolisoms 9. Cardia complications 1. High cardiac output result into Chlornic chamber enlargement and corrosion 2. Congestive heart feliur  Reduced O2 corrying capacity 4. hypertensions. 20). Life expectancy female - I) 48 years survive ii) male - 42 years survive.         10. Obstetrics and Gynecology problems 1. Dymenothea 2. pelvit infection_, 3. fribrocrystic disease of breast 4. Pregnancy complications i.e placenta blood flow intrauterine growth retardations low birth weight, pre-eclampsia 12. Ocular complications (opthalmological) 1. anterior chamber ischemia 2.ongoid streaks 4. Proliferative ratingpothy 5 Ratinal haemorrhage. Dermatological complications. Bone complications and infections accouure in 5: 6 Anemia.                                                                   7 DIAGNOSIS OF SICKLE CELL ANEMIA ----  Tests for diagnosis in pathology 1. CBC (complete blood count) - hemoglobin amount per 100 ml of blood.  2. Sickle solubility test  3. Electrophoresis 4. High performance required chromatography. 4. Prevention and Management 1. Nutritional management folic acid, iron rich fruits. Zinc rich foods 2. Take 5mg tablet of  folic acid both carrier. and suffering patient from Gov.health.  survice centers 3. The food containing cynate  derivatives ie thiocyanate. (It inhabits the sideling of RBC 4 other treatments also available thats are Intervenous fluid bone marrow transplant, blood transfusion etc.  ---- To fight against disease be educate and educate the people. Thanks!         Copyright ©️ - Gaurav khandare

Airborne Transmission of SARS CoV-2 -- A Distinct possibility

 WHAT IS AIRBORNE TRANSMISSIONS ?                     It is the spread of an infectious agent caused by the dissemination of droplet nuclei (aerosols) that remain infectious when suspended in air over long distances & time The infectious droplet nuclei can be inhaled by healthy people into their lungs.                                                                                         EMERGING EVIDENCE OF AIRBORNE SPREAD OF SARS - COV - 2 239 scientists have claimed that SARS - CoV - 2 can spread through air, and as per WHO, airborne transmission of the virus can occur during medical procedures that generate aerosols The possibility of aerosol transmission has been suggested in some outbreak reports related to indoor crowded spaces .                          HOW SMALL IS CORONAVIRUS?    One hundred million coronavirus particles could fit on the head of a pin Fine beach sand ~ 90 microns Human hair ~ 50-70 microns PM 10 (Dust, pollen, etc.) - 10 microns PM 2.5 (Combustion particles, etc.) 2.5  microns - SARS - CoV - 2 - 0.1 micron                                                                                             DIFFERENCE BETWEEN AIRBORNE & DROPLET TRANSMISSION DROPLET TRANSMISSION.                                         Coughs & sneezes from an infected person can spread respiratory droplets (> 5-10 microns) of saliva and mucus to people in close contact (within 1 m) AIRBORNE  ) produced can remain sus pended in the air for longer & be transmitted to others over distances greater than 1m.                                                                                                                     PRECAUTIONS AGAINST AIRBORNE TRANSMISSION OF SARS - COV - 2 Elaborating on how one can keep oneself safe in such a scenario, CSIR chief Shekhar C Mande suggested, avoid large crowded gatherings keep enclosed places like workplaces well ventilated most importantly, continue wearing masks even in enclosed  spaces                                   copyright ©️ - Gaurav khandare

The Third wave of COVID-19 will Hit childrens in big way

 Now a days India suffering from second wave of COVID-19. It's going so difficult to Indian healthcare system to provide all medical facilities to Covid-19 Infected patients, Indian healthcare system facing so many problems like unavailability of ICU beds, Oxygen Concentrator, Ventilators, Remdisivir Injections specially in Maharashtra state.                                                                                                                                          Infectious Disease Epidemiologists and Virologists are saying that the third wave will comming soon, it's also great challenge for Indian Government and healthcare system. Dr.Maria Van Kerkhove ( Infectious  Diseases Epidemiologists at WHO ) also says that "B.1.617 Coronaviruse variant that was first identified in India has been classified as a variant of interest by WHO. The Virologists Dr.V.Ravi from Bengaluru (Karnataka) has warned that the third wave of Covid- 19 will Hit the childrens in big way. The Virologists also suggested the government to take some stern steps to prevent crowding of people even after the end of second wave.                                                                                                               Dr.Ravi also says that "The way India handled the first wave was commendable, but thereafter experts' warning of a harsher second wave was not taken seriously and it is partially the reason behind the situation vaccination we are in today Covid cannot be handled well without scientific, data driven. interventions," Dr. Ravi, who is also the nodal officer for genome sequencing of SARS -CoV-2 virus in Karnataka, said the double mutant variant (B.1.617) is rapidly spreading in communities. "At the end of March the double mutant variant was detected in 5-10% of community samples, whereas it has now shot up to 45%. The other variant that is al so quickly spreading in communities is the UK variant," he said. ad ding that it should not be a concern for people as identifying mutants is just an academic exercise. He predicted that the second wave will peak in Bengaluru in mid - May and then it may take four - six weeks for cases to decline. But, he said, cases will continue to surge in other dis tricts after the second wave plateaus or declines in Bengaluru.                                                                                                                              The symptoms of B.1.167 variant include : 1) Gastrointestinal Infection (GI) - like Diarrhoea, Nausea, vomiting, Dehydration, Abdominal Pain                                                  2) Mucormycosis ( Black fungal Infection ) also observed in some patients after recovered from Covid -19 infection                        The Virologists also says  "We have don't enough paediatric Covid care wards, ICUs for childrens. This has to be scaled up"             So it is time for both Central and State Government to chalkout strategies.                                                              Thanks for Reading                        Copyright ©️ - Gaurav Khandare            

Mucormycosis In Covid 19 Infected Patients

 Mucormycosis (previously called zygomycosis) is a serious but rare fungal infection caused by a group of molds called mucormycetes. These molds live throughout the environment. Mucormycosis mainly affects people who have health problems or take medicines that lower the body’s ability to fight germs and sickness. It most commonly affects the sinuses or the lungs after inhaling fungal spores from the air. It can also occur on the skin after a cut, burn, or other type of skin injury.

The symptoms of mucormycosis depend on where in the body the fungus is growing. 1,4 Contact your healthcare provider if you have symptoms that you think are related to mucormycosis.

Symptoms of rhinocerebral (sinus and brain) mucormycosis include:

One-sided facial swelling

Headache

Nasal or sinus congestion

Black lesions on nasal bridge or upper inside of mouth that quickly become more severe

Fever

Symptoms of pulmonary (lung) mucormycosis include:

Fever

Cough

Chest pain

Shortness of breath

Cutaneous (skin) mucormycosis can look like blisters or ulcers, and the infected area may turn black. Other symptoms include pain, warmth, excessive redness, or swelling around a wound.

Symptoms of gastrointestinal mucormycosis include:

Abdominal pain

Nausea and vomiting

Gastrointestinal bleeding

Disseminated mucormycosis typically occurs in people who are already sick from other medical conditions, so it can be difficult to know which symptoms are related to mucormycosis. Patients with disseminated infection in the brain can develop mental status changes or coma                                          Thanks 😊      Copyright ©️ Gauravkhandare